Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71645829_71645863delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTGCA1918809233CDH23c.1141-2_1173delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.572-2_604delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
n.977-2_1009delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.805-2_837delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.1156-2_1188delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.886-2_918delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.110-2_142delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.1139_1173delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG (p.Gln380=)
c.1336-2_1368delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.1270-2_1302delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.1330-2_1362delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.1276-2_1308delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.1201-2_1233delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.796-2_828delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
c.154-2_186delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
n.1579-2_1611delinsAGGGCCTGAACAGCATGTTTGAGGTGTACTTGGTG
10g.71645833_71645866delCA5543716CDH23c.1143_1176del
c.574_607del
n.979_1012del
c.807_840del
c.1158_1191del
c.888_921del
c.112_145del
c.1143_1176del (p.Leu382ThrfsTer?)
c.1338_1371del
c.1272_1305del
c.1332_1365del
c.1278_1311del
c.1203_1236del
c.798_831del
c.156_189del
n.1581_1614del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71645851G>ACA470057946CDH23c.1161G>A (p.Glu387=)
c.592G>A
n.997G>A
c.825G>A (p.Glu275=)
c.1176G>A (p.Glu392=)
c.906G>A (p.Glu302=)
c.130G>A
c.1356G>A (p.Glu452=)
c.1290G>A (p.Glu430=)
c.1350G>A (p.Glu450=)
c.1296G>A (p.Glu432=)
c.1221G>A (p.Glu407=)
c.816G>A (p.Glu272=)
c.174G>A (p.Glu58=)
n.1599G>A
10g.71645851G>CCA377127458CDH23c.1161G>C (p.Glu387Asp)
c.592G>C
n.997G>C
c.825G>C (p.Glu275Asp)
c.1176G>C (p.Glu392Asp)
c.906G>C (p.Glu302Asp)
c.130G>C
c.1356G>C (p.Glu452Asp)
c.1290G>C (p.Glu430Asp)
c.1350G>C (p.Glu450Asp)
c.1296G>C (p.Glu432Asp)
c.1221G>C (p.Glu407Asp)
c.816G>C (p.Glu272Asp)
c.174G>C (p.Glu58Asp)
n.1599G>C
10g.71645851G>TCA377127459CDH23c.1161G>T (p.Glu387Asp)
c.592G>T
n.997G>T
c.825G>T (p.Glu275Asp)
c.1176G>T (p.Glu392Asp)
c.906G>T (p.Glu302Asp)
c.130G>T
c.1356G>T (p.Glu452Asp)
c.1290G>T (p.Glu430Asp)
c.1350G>T (p.Glu450Asp)
c.1296G>T (p.Glu432Asp)
c.1221G>T (p.Glu407Asp)
c.816G>T (p.Glu272Asp)
c.174G>T (p.Glu58Asp)
n.1599G>T
10g.71645852delCA2573145357CDH23c.1162del (p.Val388CysfsTer?)
c.593del
n.998del
c.826del (p.Val276CysfsTer?)
c.1177del (p.Val393CysfsTer?)
c.907del (p.Val303CysfsTer?)
c.131del
c.1357del (p.Val453CysfsTer?)
c.1291del (p.Val431CysfsTer?)
c.1351del (p.Val451CysfsTer?)
c.1297del (p.Val433CysfsTer?)
c.1222del (p.Val408CysfsTer?)
c.817del (p.Val273CysfsTer?)
c.175del (p.Val59CysfsTer?)
n.1600del
 ClinVar dbSNP
10g.71645852G>ACA5543721CDH23c.1162G>A (p.Val388Met)
c.593G>A
n.998G>A
c.826G>A (p.Val276Met)
c.1177G>A (p.Val393Met)
c.907G>A (p.Val303Met)
c.131G>A
c.1357G>A (p.Val453Met)
c.1291G>A (p.Val431Met)
c.1351G>A (p.Val451Met)
c.1297G>A (p.Val433Met)
c.1222G>A (p.Val408Met)
c.817G>A (p.Val273Met)
c.175G>A (p.Val59Met)
n.1600G>A
 dbSNP ExAC gnomAD v2
10g.71645852G>CCA377127464CDH23c.1162G>C (p.Val388Leu)
c.593G>C
n.998G>C
c.826G>C (p.Val276Leu)
c.1177G>C (p.Val393Leu)
c.907G>C (p.Val303Leu)
c.131G>C
c.1357G>C (p.Val453Leu)
c.1291G>C (p.Val431Leu)
c.1351G>C (p.Val451Leu)
c.1297G>C (p.Val433Leu)
c.1222G>C (p.Val408Leu)
c.817G>C (p.Val273Leu)
c.175G>C (p.Val59Leu)
n.1600G>C
 gnomAD v4
10g.71645852G=CA1918809243CDH23c.1162G= (p.Val388=)
c.593G=
n.998G=
c.826G= (p.Val276=)
c.1177G= (p.Val393=)
c.907G= (p.Val303=)
c.131G=
c.1357G= (p.Val453=)
c.1291G= (p.Val431=)
c.1351G= (p.Val451=)
c.1297G= (p.Val433=)
c.1222G= (p.Val408=)
c.817G= (p.Val273=)
c.175G= (p.Val59=)
n.1600G=
10g.71645852G>TCA5543722CDH23c.1162G>T (p.Val388Leu)
c.593G>T
n.998G>T
c.826G>T (p.Val276Leu)
c.1177G>T (p.Val393Leu)
c.907G>T (p.Val303Leu)
c.131G>T
c.1357G>T (p.Val453Leu)
c.1291G>T (p.Val431Leu)
c.1351G>T (p.Val451Leu)
c.1297G>T (p.Val433Leu)
c.1222G>T (p.Val408Leu)
c.817G>T (p.Val273Leu)
c.175G>T (p.Val59Leu)
n.1600G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71645853T>ACA377127466CDH23c.1163T>A (p.Val388Glu)
c.594T>A
n.999T>A
c.827T>A (p.Val276Glu)
c.1178T>A (p.Val393Glu)
c.908T>A (p.Val303Glu)
c.132T>A
c.1358T>A (p.Val453Glu)
c.1292T>A (p.Val431Glu)
c.1352T>A (p.Val451Glu)
c.1298T>A (p.Val433Glu)
c.1223T>A (p.Val408Glu)
c.818T>A (p.Val273Glu)
c.176T>A (p.Val59Glu)
n.1601T>A
10g.71645853T>CCA377127468CDH23c.1163T>C (p.Val388Ala)
c.594T>C
n.999T>C
c.827T>C (p.Val276Ala)
c.1178T>C (p.Val393Ala)
c.908T>C (p.Val303Ala)
c.132T>C
c.1358T>C (p.Val453Ala)
c.1292T>C (p.Val431Ala)
c.1352T>C (p.Val451Ala)
c.1298T>C (p.Val433Ala)
c.1223T>C (p.Val408Ala)
c.818T>C (p.Val273Ala)
c.176T>C (p.Val59Ala)
n.1601T>C
10g.71645853T>GCA377127470CDH23c.1163T>G (p.Val388Gly)
c.594T>G
n.999T>G
c.827T>G (p.Val276Gly)
c.1178T>G (p.Val393Gly)
c.908T>G (p.Val303Gly)
c.132T>G
c.1358T>G (p.Val453Gly)
c.1292T>G (p.Val431Gly)
c.1352T>G (p.Val451Gly)
c.1298T>G (p.Val433Gly)
c.1223T>G (p.Val408Gly)
c.818T>G (p.Val273Gly)
c.176T>G (p.Val59Gly)
n.1601T>G
10g.71645854G>ACA5543723CDH23c.1164G>A (p.Val388=)
c.595G>A
n.1000G>A
c.828G>A (p.Val276=)
c.1179G>A (p.Val393=)
c.909G>A (p.Val303=)
c.133G>A
c.1359G>A (p.Val453=)
c.1293G>A (p.Val431=)
c.1353G>A (p.Val451=)
c.1299G>A (p.Val433=)
c.1224G>A (p.Val408=)
c.819G>A (p.Val273=)
c.177G>A (p.Val59=)
n.1602G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71645854G>CCA470057947CDH23c.1164G>C (p.Val388=)
c.595G>C
n.1000G>C
c.828G>C (p.Val276=)
c.1179G>C (p.Val393=)
c.909G>C (p.Val303=)
c.133G>C
c.1359G>C (p.Val453=)
c.1293G>C (p.Val431=)
c.1353G>C (p.Val451=)
c.1299G>C (p.Val433=)
c.1224G>C (p.Val408=)
c.819G>C (p.Val273=)
c.177G>C (p.Val59=)
n.1602G>C
10g.71645854G=CA1918809244CDH23c.1164G= (p.Val388=)
c.595G=
n.1000G=
c.828G= (p.Val276=)
c.1179G= (p.Val393=)
c.909G= (p.Val303=)
c.133G=
c.1359G= (p.Val453=)
c.1293G= (p.Val431=)
c.1353G= (p.Val451=)
c.1299G= (p.Val433=)
c.1224G= (p.Val408=)
c.819G= (p.Val273=)
c.177G= (p.Val59=)
n.1602G=
10g.71645854G>TCA470057948CDH23c.1164G>T (p.Val388=)
c.595G>T
n.1000G>T
c.828G>T (p.Val276=)
c.1179G>T (p.Val393=)
c.909G>T (p.Val303=)
c.133G>T
c.1359G>T (p.Val453=)
c.1293G>T (p.Val431=)
c.1353G>T (p.Val451=)
c.1299G>T (p.Val433=)
c.1224G>T (p.Val408=)
c.819G>T (p.Val273=)
c.177G>T (p.Val59=)
n.1602G>T
10g.71645855T>ACA377127473CDH23c.1165T>A (p.Tyr389Asn)
c.596T>A
n.1001T>A
c.829T>A (p.Tyr277Asn)
c.1180T>A (p.Tyr394Asn)
c.910T>A (p.Tyr304Asn)
c.134T>A
c.1360T>A (p.Tyr454Asn)
c.1294T>A (p.Tyr432Asn)
c.1354T>A (p.Tyr452Asn)
c.1300T>A (p.Tyr434Asn)
c.1225T>A (p.Tyr409Asn)
c.820T>A (p.Tyr274Asn)
c.178T>A (p.Tyr60Asn)
n.1603T>A
10g.71645855T>CCA377127474CDH23c.1165T>C (p.Tyr389His)
c.596T>C
n.1001T>C
c.829T>C (p.Tyr277His)
c.1180T>C (p.Tyr394His)
c.910T>C (p.Tyr304His)
c.134T>C
c.1360T>C (p.Tyr454His)
c.1294T>C (p.Tyr432His)
c.1354T>C (p.Tyr452His)
c.1300T>C (p.Tyr434His)
c.1225T>C (p.Tyr409His)
c.820T>C (p.Tyr274His)
c.178T>C (p.Tyr60His)
n.1603T>C
10g.71645855T>GCA377127476CDH23c.1165T>G (p.Tyr389Asp)
c.596T>G
n.1001T>G
c.829T>G (p.Tyr277Asp)
c.1180T>G (p.Tyr394Asp)
c.910T>G (p.Tyr304Asp)
c.134T>G
c.1360T>G (p.Tyr454Asp)
c.1294T>G (p.Tyr432Asp)
c.1354T>G (p.Tyr452Asp)
c.1300T>G (p.Tyr434Asp)
c.1225T>G (p.Tyr409Asp)
c.820T>G (p.Tyr274Asp)
c.178T>G (p.Tyr60Asp)
n.1603T>G
10g.71645856A=CA1918809245CDH23c.1166A= (p.Tyr389=)
c.597A=
n.1002A=
c.830A= (p.Tyr277=)
c.1181A= (p.Tyr394=)
c.911A= (p.Tyr304=)
c.135A=
c.1361A= (p.Tyr454=)
c.1295A= (p.Tyr432=)
c.1355A= (p.Tyr452=)
c.1301A= (p.Tyr434=)
c.1226A= (p.Tyr409=)
c.821A= (p.Tyr274=)
c.179A= (p.Tyr60=)
n.1604A=
10g.71645856A>CCA377127482CDH23c.1166A>C (p.Tyr389Ser)
c.597A>C
n.1002A>C
c.830A>C (p.Tyr277Ser)
c.1181A>C (p.Tyr394Ser)
c.911A>C (p.Tyr304Ser)
c.135A>C
c.1361A>C (p.Tyr454Ser)
c.1295A>C (p.Tyr432Ser)
c.1355A>C (p.Tyr452Ser)
c.1301A>C (p.Tyr434Ser)
c.1226A>C (p.Tyr409Ser)
c.821A>C (p.Tyr274Ser)
c.179A>C (p.Tyr60Ser)
n.1604A>C
 dbSNP gnomAD v4
10g.71645856A>GCA377127479CDH23c.1166A>G (p.Tyr389Cys)
c.597A>G
n.1002A>G
c.830A>G (p.Tyr277Cys)
c.1181A>G (p.Tyr394Cys)
c.911A>G (p.Tyr304Cys)
c.135A>G
c.1361A>G (p.Tyr454Cys)
c.1295A>G (p.Tyr432Cys)
c.1355A>G (p.Tyr452Cys)
c.1301A>G (p.Tyr434Cys)
c.1226A>G (p.Tyr409Cys)
c.821A>G (p.Tyr274Cys)
c.179A>G (p.Tyr60Cys)
n.1604A>G
10g.71645856A>TCA377127480CDH23c.1166A>T (p.Tyr389Phe)
c.597A>T
n.1002A>T
c.830A>T (p.Tyr277Phe)
c.1181A>T (p.Tyr394Phe)
c.911A>T (p.Tyr304Phe)
c.135A>T
c.1361A>T (p.Tyr454Phe)
c.1295A>T (p.Tyr432Phe)
c.1355A>T (p.Tyr452Phe)
c.1301A>T (p.Tyr434Phe)
c.1226A>T (p.Tyr409Phe)
c.821A>T (p.Tyr274Phe)
c.179A>T (p.Tyr60Phe)
n.1604A>T
10g.71645857C>ACA377127485CDH23c.1167C>A (p.Tyr389Ter)
c.598C>A
n.1003C>A
c.831C>A (p.Tyr277Ter)
c.1182C>A (p.Tyr394Ter)
c.912C>A (p.Tyr304Ter)
c.136C>A
c.1362C>A (p.Tyr454Ter)
c.1296C>A (p.Tyr432Ter)
c.1356C>A (p.Tyr452Ter)
c.1302C>A (p.Tyr434Ter)
c.1227C>A (p.Tyr409Ter)
c.822C>A (p.Tyr274Ter)
c.180C>A (p.Tyr60Ter)
n.1605C>A
 COSMIC COSMIC
10g.71645857C>GCA377127486CDH23c.1167C>G (p.Tyr389Ter)
c.598C>G
n.1003C>G
c.831C>G (p.Tyr277Ter)
c.1182C>G (p.Tyr394Ter)
c.912C>G (p.Tyr304Ter)
c.136C>G
c.1362C>G (p.Tyr454Ter)
c.1296C>G (p.Tyr432Ter)
c.1356C>G (p.Tyr452Ter)
c.1302C>G (p.Tyr434Ter)
c.1227C>G (p.Tyr409Ter)
c.822C>G (p.Tyr274Ter)
c.180C>G (p.Tyr60Ter)
n.1605C>G
10g.71645857C>TCA470057949CDH23c.1167C>T (p.Tyr389=)
c.598C>T
n.1003C>T
c.831C>T (p.Tyr277=)
c.1182C>T (p.Tyr394=)
c.912C>T (p.Tyr304=)
c.136C>T
c.1362C>T (p.Tyr454=)
c.1296C>T (p.Tyr432=)
c.1356C>T (p.Tyr452=)
c.1302C>T (p.Tyr434=)
c.1227C>T (p.Tyr409=)
c.822C>T (p.Tyr274=)
c.180C>T (p.Tyr60=)
n.1605C>T
10g.71645858T>ACA377127489CDH23c.1168T>A (p.Leu390Met)
c.599T>A
n.1004T>A
c.832T>A (p.Leu278Met)
c.1183T>A (p.Leu395Met)
c.913T>A (p.Leu305Met)
c.137T>A
c.1363T>A (p.Leu455Met)
c.1297T>A (p.Leu433Met)
c.1357T>A (p.Leu453Met)
c.1303T>A (p.Leu435Met)
c.1228T>A (p.Leu410Met)
c.823T>A (p.Leu275Met)
c.181T>A (p.Leu61Met)
n.1606T>A
10g.71645858T>CCA5543724CDH23c.1168T>C (p.Leu390=)
c.599T>C
n.1004T>C
c.832T>C (p.Leu278=)
c.1183T>C (p.Leu395=)
c.913T>C (p.Leu305=)
c.137T>C
c.1363T>C (p.Leu455=)
c.1297T>C (p.Leu433=)
c.1357T>C (p.Leu453=)
c.1303T>C (p.Leu435=)
c.1228T>C (p.Leu410=)
c.823T>C (p.Leu275=)
c.181T>C (p.Leu61=)
n.1606T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71645858T>GCA377127491CDH23c.1168T>G (p.Leu390Val)
c.599T>G
n.1004T>G
c.832T>G (p.Leu278Val)
c.1183T>G (p.Leu395Val)
c.913T>G (p.Leu305Val)
c.137T>G
c.1363T>G (p.Leu455Val)
c.1297T>G (p.Leu433Val)
c.1357T>G (p.Leu453Val)
c.1303T>G (p.Leu435Val)
c.1228T>G (p.Leu410Val)
c.823T>G (p.Leu275Val)
c.181T>G (p.Leu61Val)
n.1606T>G
10g.71645858T=CA1918809246CDH23c.1168T= (p.Leu390=)
c.599T=
n.1004T=
c.832T= (p.Leu278=)
c.1183T= (p.Leu395=)
c.913T= (p.Leu305=)
c.137T=
c.1363T= (p.Leu455=)
c.1297T= (p.Leu433=)
c.1357T= (p.Leu453=)
c.1303T= (p.Leu435=)
c.1228T= (p.Leu410=)
c.823T= (p.Leu275=)
c.181T= (p.Leu61=)
n.1606T=
10g.71645859T>ACA377127494CDH23c.1169T>A (p.Leu390Ter)
c.600T>A
n.1005T>A
c.833T>A (p.Leu278Ter)
c.1184T>A (p.Leu395Ter)
c.914T>A (p.Leu305Ter)
c.138T>A
c.1364T>A (p.Leu455Ter)
c.1298T>A (p.Leu433Ter)
c.1358T>A (p.Leu453Ter)
c.1304T>A (p.Leu435Ter)
c.1229T>A (p.Leu410Ter)
c.824T>A (p.Leu275Ter)
c.182T>A (p.Leu61Ter)
n.1607T>A
10g.71645859T>CCA377127495CDH23c.1169T>C (p.Leu390Ser)
c.600T>C
n.1005T>C
c.833T>C (p.Leu278Ser)
c.1184T>C (p.Leu395Ser)
c.914T>C (p.Leu305Ser)
c.138T>C
c.1364T>C (p.Leu455Ser)
c.1298T>C (p.Leu433Ser)
c.1358T>C (p.Leu453Ser)
c.1304T>C (p.Leu435Ser)
c.1229T>C (p.Leu410Ser)
c.824T>C (p.Leu275Ser)
c.182T>C (p.Leu61Ser)
n.1607T>C
10g.71645859T>GCA377127497CDH23c.1169T>G (p.Leu390Trp)
c.600T>G
n.1005T>G
c.833T>G (p.Leu278Trp)
c.1184T>G (p.Leu395Trp)
c.914T>G (p.Leu305Trp)
c.138T>G
c.1364T>G (p.Leu455Trp)
c.1298T>G (p.Leu433Trp)
c.1358T>G (p.Leu453Trp)
c.1304T>G (p.Leu435Trp)
c.1229T>G (p.Leu410Trp)
c.824T>G (p.Leu275Trp)
c.182T>G (p.Leu61Trp)
n.1607T>G
10g.71645860G>ACA470057950CDH23c.1170G>A (p.Leu390=)
c.601G>A
n.1006G>A
c.834G>A (p.Leu278=)
c.1185G>A (p.Leu395=)
c.915G>A (p.Leu305=)
c.139G>A
c.1365G>A (p.Leu455=)
c.1299G>A (p.Leu433=)
c.1359G>A (p.Leu453=)
c.1305G>A (p.Leu435=)
c.1230G>A (p.Leu410=)
c.825G>A (p.Leu275=)
c.183G>A (p.Leu61=)
n.1608G>A
10g.71645860G>CCA377127500CDH23c.1170G>C (p.Leu390Phe)
c.601G>C
n.1006G>C
c.834G>C (p.Leu278Phe)
c.1185G>C (p.Leu395Phe)
c.915G>C (p.Leu305Phe)
c.139G>C
c.1365G>C (p.Leu455Phe)
c.1299G>C (p.Leu433Phe)
c.1359G>C (p.Leu453Phe)
c.1305G>C (p.Leu435Phe)
c.1230G>C (p.Leu410Phe)
c.825G>C (p.Leu275Phe)
c.183G>C (p.Leu61Phe)
n.1608G>C
 dbSNP
10g.71645860G=CA1918809247CDH23c.1170G= (p.Leu390=)
c.601G=
n.1006G=
c.834G= (p.Leu278=)
c.1185G= (p.Leu395=)
c.915G= (p.Leu305=)
c.139G=
c.1365G= (p.Leu455=)
c.1299G= (p.Leu433=)
c.1359G= (p.Leu453=)
c.1305G= (p.Leu435=)
c.1230G= (p.Leu410=)
c.825G= (p.Leu275=)
c.183G= (p.Leu61=)
n.1608G=
10g.71645860G>TCA377127501CDH23c.1170G>T (p.Leu390Phe)
c.601G>T
n.1006G>T
c.834G>T (p.Leu278Phe)
c.1185G>T (p.Leu395Phe)
c.915G>T (p.Leu305Phe)
c.139G>T
c.1365G>T (p.Leu455Phe)
c.1299G>T (p.Leu433Phe)
c.1359G>T (p.Leu453Phe)
c.1305G>T (p.Leu435Phe)
c.1230G>T (p.Leu410Phe)
c.825G>T (p.Leu275Phe)
c.183G>T (p.Leu61Phe)
n.1608G>T
10g.71645861G>ACA377127508CDH23c.1171G>A (p.Val391Met)
c.602G>A
n.1007G>A
c.835G>A (p.Val279Met)
c.1186G>A (p.Val396Met)
c.916G>A (p.Val306Met)
c.140G>A
c.1366G>A (p.Val456Met)
c.1300G>A (p.Val434Met)
c.1360G>A (p.Val454Met)
c.1306G>A (p.Val436Met)
c.1231G>A (p.Val411Met)
c.826G>A (p.Val276Met)
c.184G>A (p.Val62Met)
n.1609G>A
 gnomAD v4
10g.71645861G>CCA377127506CDH23c.1171G>C (p.Val391Leu)
c.602G>C
n.1007G>C
c.835G>C (p.Val279Leu)
c.1186G>C (p.Val396Leu)
c.916G>C (p.Val306Leu)
c.140G>C
c.1366G>C (p.Val456Leu)
c.1300G>C (p.Val434Leu)
c.1360G>C (p.Val454Leu)
c.1306G>C (p.Val436Leu)
c.1231G>C (p.Val411Leu)
c.826G>C (p.Val276Leu)
c.184G>C (p.Val62Leu)
n.1609G>C
10g.71645861G>TCA377127504CDH23c.1171G>T (p.Val391Leu)
c.602G>T
n.1007G>T
c.835G>T (p.Val279Leu)
c.1186G>T (p.Val396Leu)
c.916G>T (p.Val306Leu)
c.140G>T
c.1366G>T (p.Val456Leu)
c.1300G>T (p.Val434Leu)
c.1360G>T (p.Val454Leu)
c.1306G>T (p.Val436Leu)
c.1231G>T (p.Val411Leu)
c.826G>T (p.Val276Leu)
c.184G>T (p.Val62Leu)
n.1609G>T
10g.71645862T>ACA377127511CDH23c.1172T>A (p.Val391Glu)
c.603T>A
n.1008T>A
c.836T>A (p.Val279Glu)
c.1187T>A (p.Val396Glu)
c.917T>A (p.Val306Glu)
c.141T>A
c.1367T>A (p.Val456Glu)
c.1301T>A (p.Val434Glu)
c.1361T>A (p.Val454Glu)
c.1307T>A (p.Val436Glu)
c.1232T>A (p.Val411Glu)
c.827T>A (p.Val276Glu)
c.185T>A (p.Val62Glu)
n.1610T>A
10g.71645862T>CCA377127514CDH23c.1172T>C (p.Val391Ala)
c.603T>C
n.1008T>C
c.836T>C (p.Val279Ala)
c.1187T>C (p.Val396Ala)
c.917T>C (p.Val306Ala)
c.141T>C
c.1367T>C (p.Val456Ala)
c.1301T>C (p.Val434Ala)
c.1361T>C (p.Val454Ala)
c.1307T>C (p.Val436Ala)
c.1232T>C (p.Val411Ala)
c.827T>C (p.Val276Ala)
c.185T>C (p.Val62Ala)
n.1610T>C
10g.71645862T>GCA377127512CDH23c.1172T>G (p.Val391Gly)
c.603T>G
n.1008T>G
c.836T>G (p.Val279Gly)
c.1187T>G (p.Val396Gly)
c.917T>G (p.Val306Gly)
c.141T>G
c.1367T>G (p.Val456Gly)
c.1301T>G (p.Val434Gly)
c.1361T>G (p.Val454Gly)
c.1307T>G (p.Val436Gly)
c.1232T>G (p.Val411Gly)
c.827T>G (p.Val276Gly)
c.185T>G (p.Val62Gly)
n.1610T>G
10g.71645863G>ACA470057951CDH23c.1173G>A (p.Val391=)
c.604G>A
n.1009G>A
c.837G>A (p.Val279=)
c.1188G>A (p.Val396=)
c.918G>A (p.Val306=)
c.142G>A
c.1368G>A (p.Val456=)
c.1302G>A (p.Val434=)
c.1362G>A (p.Val454=)
c.1308G>A (p.Val436=)
c.1233G>A (p.Val411=)
c.828G>A (p.Val276=)
c.186G>A (p.Val62=)
n.1611G>A
 dbSNP gnomAD v2 gnomAD v4
10g.71645863G>CCA470057952CDH23c.1173G>C (p.Val391=)
c.604G>C
n.1009G>C
c.837G>C (p.Val279=)
c.1188G>C (p.Val396=)
c.918G>C (p.Val306=)
c.142G>C
c.1368G>C (p.Val456=)
c.1302G>C (p.Val434=)
c.1362G>C (p.Val454=)
c.1308G>C (p.Val436=)
c.1233G>C (p.Val411=)
c.828G>C (p.Val276=)
c.186G>C (p.Val62=)
n.1611G>C
10g.71645863G=CA1918809248CDH23c.1173G= (p.Val391=)
c.604G=
n.1009G=
c.837G= (p.Val279=)
c.1188G= (p.Val396=)
c.918G= (p.Val306=)
c.142G=
c.1368G= (p.Val456=)
c.1302G= (p.Val434=)
c.1362G= (p.Val454=)
c.1308G= (p.Val436=)
c.1233G= (p.Val411=)
c.828G= (p.Val276=)
c.186G= (p.Val62=)
n.1611G=
10g.71645863G>TCA470057953CDH23c.1173G>T (p.Val391=)
c.604G>T
n.1009G>T
c.837G>T (p.Val279=)
c.1188G>T (p.Val396=)
c.918G>T (p.Val306=)
c.142G>T
c.1368G>T (p.Val456=)
c.1302G>T (p.Val434=)
c.1362G>T (p.Val454=)
c.1308G>T (p.Val436=)
c.1233G>T (p.Val411=)
c.828G>T (p.Val276=)
c.186G>T (p.Val62=)
n.1611G>T
10g.71645864G>ACA377127516CDH23c.1174G>A (p.Gly392Arg)
c.605G>A
n.1010G>A
c.838G>A (p.Gly280Arg)
c.1189G>A (p.Gly397Arg)
c.919G>A (p.Gly307Arg)
c.143G>A
c.1369G>A (p.Gly457Arg)
c.1303G>A (p.Gly435Arg)
c.1363G>A (p.Gly455Arg)
c.1309G>A (p.Gly437Arg)
c.1234G>A (p.Gly412Arg)
c.829G>A (p.Gly277Arg)
c.187G>A (p.Gly63Arg)
n.1612G>A
10g.71645864G>CCA377127517CDH23c.1174G>C (p.Gly392Arg)
c.605G>C
n.1010G>C
c.838G>C (p.Gly280Arg)
c.1189G>C (p.Gly397Arg)
c.919G>C (p.Gly307Arg)
c.143G>C
c.1369G>C (p.Gly457Arg)
c.1303G>C (p.Gly435Arg)
c.1363G>C (p.Gly455Arg)
c.1309G>C (p.Gly437Arg)
c.1234G>C (p.Gly412Arg)
c.829G>C (p.Gly277Arg)
c.187G>C (p.Gly63Arg)
n.1612G>C
 COSMIC COSMIC COSMIC COSMIC
10g.71645864G>TCA377127520CDH23c.1174G>T (p.Gly392Trp)
c.605G>T
n.1010G>T
c.838G>T (p.Gly280Trp)
c.1189G>T (p.Gly397Trp)
c.919G>T (p.Gly307Trp)
c.143G>T
c.1369G>T (p.Gly457Trp)
c.1303G>T (p.Gly435Trp)
c.1363G>T (p.Gly455Trp)
c.1309G>T (p.Gly437Trp)
c.1234G>T (p.Gly412Trp)
c.829G>T (p.Gly277Trp)
c.187G>T (p.Gly63Trp)
n.1612G>T
10g.71645865G>ACA377127521CDH23c.1175G>A (p.Gly392Glu)
c.606G>A
n.1011G>A
c.839G>A (p.Gly280Glu)
c.1190G>A (p.Gly397Glu)
c.920G>A (p.Gly307Glu)
c.144G>A
c.1370G>A (p.Gly457Glu)
c.1304G>A (p.Gly435Glu)
c.1364G>A (p.Gly455Glu)
c.1310G>A (p.Gly437Glu)
c.1235G>A (p.Gly412Glu)
c.830G>A (p.Gly277Glu)
c.188G>A (p.Gly63Glu)
n.1613G>A
 dbSNP gnomAD v3 gnomAD v4
10g.71645865G>CCA377127523CDH23c.1175G>C (p.Gly392Ala)
c.606G>C
n.1011G>C
c.839G>C (p.Gly280Ala)
c.1190G>C (p.Gly397Ala)
c.920G>C (p.Gly307Ala)
c.144G>C
c.1370G>C (p.Gly457Ala)
c.1304G>C (p.Gly435Ala)
c.1364G>C (p.Gly455Ala)
c.1310G>C (p.Gly437Ala)
c.1235G>C (p.Gly412Ala)
c.830G>C (p.Gly277Ala)
c.188G>C (p.Gly63Ala)
n.1613G>C
10g.71645865G=CA1918809249CDH23c.1175G= (p.Gly392=)
c.606G=
n.1011G=
c.839G= (p.Gly280=)
c.1190G= (p.Gly397=)
c.920G= (p.Gly307=)
c.144G=
c.1370G= (p.Gly457=)
c.1304G= (p.Gly435=)
c.1364G= (p.Gly455=)
c.1310G= (p.Gly437=)
c.1235G= (p.Gly412=)
c.830G= (p.Gly277=)
c.188G= (p.Gly63=)
n.1613G=
10g.71645865G>TCA377127525CDH23c.1175G>T (p.Gly392Val)
c.606G>T
n.1011G>T
c.839G>T (p.Gly280Val)
c.1190G>T (p.Gly397Val)
c.920G>T (p.Gly307Val)
c.144G>T
c.1370G>T (p.Gly457Val)
c.1304G>T (p.Gly435Val)
c.1364G>T (p.Gly455Val)
c.1310G>T (p.Gly437Val)
c.1235G>T (p.Gly412Val)
c.830G>T (p.Gly277Val)
c.188G>T (p.Gly63Val)
n.1613G>T
10g.71645866G>ACA470057956CDH23c.1176G>A (p.Gly392=)
c.607G>A
n.1012G>A
c.840G>A (p.Gly280=)
c.1191G>A (p.Gly397=)
c.921G>A (p.Gly307=)
c.145G>A
c.1371G>A (p.Gly457=)
c.1305G>A (p.Gly435=)
c.1365G>A (p.Gly455=)
c.1311G>A (p.Gly437=)
c.1236G>A (p.Gly412=)
c.831G>A (p.Gly277=)
c.189G>A (p.Gly63=)
n.1614G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71645866G>CCA470057957CDH23c.1176G>C (p.Gly392=)
c.607G>C
n.1012G>C
c.840G>C (p.Gly280=)
c.1191G>C (p.Gly397=)
c.921G>C (p.Gly307=)
c.145G>C
c.1371G>C (p.Gly457=)
c.1305G>C (p.Gly435=)
c.1365G>C (p.Gly455=)
c.1311G>C (p.Gly437=)
c.1236G>C (p.Gly412=)
c.831G>C (p.Gly277=)
c.189G>C (p.Gly63=)
n.1614G>C
10g.71645866G=CA1918809250CDH23c.1176G= (p.Gly392=)
c.607G=
n.1012G=
c.840G= (p.Gly280=)
c.1191G= (p.Gly397=)
c.921G= (p.Gly307=)
c.145G=
c.1371G= (p.Gly457=)
c.1305G= (p.Gly435=)
c.1365G= (p.Gly455=)
c.1311G= (p.Gly437=)
c.1236G= (p.Gly412=)
c.831G= (p.Gly277=)
c.189G= (p.Gly63=)
n.1614G=
10g.71645866G>TCA470057958CDH23c.1176G>T (p.Gly392=)
c.607G>T
n.1012G>T
c.840G>T (p.Gly280=)
c.1191G>T (p.Gly397=)
c.921G>T (p.Gly307=)
c.145G>T
c.1371G>T (p.Gly457=)
c.1305G>T (p.Gly435=)
c.1365G>T (p.Gly455=)
c.1311G>T (p.Gly437=)
c.1236G>T (p.Gly412=)
c.831G>T (p.Gly277=)
c.189G>T (p.Gly63=)
n.1614G>T
10g.71645867A>CCA377127528CDH23c.1177A>C (p.Asn393His)
c.608A>C
n.1013A>C
c.841A>C (p.Asn281His)
c.1192A>C (p.Asn398His)
c.922A>C (p.Asn308His)
c.146A>C
c.1372A>C (p.Asn458His)
c.1306A>C (p.Asn436His)
c.1366A>C (p.Asn456His)
c.1312A>C (p.Asn438His)
c.1237A>C (p.Asn413His)
c.832A>C (p.Asn278His)
c.190A>C (p.Asn64His)
n.1615A>C
10g.71645867A>GCA377127529CDH23c.1177A>G (p.Asn393Asp)
c.608A>G
n.1013A>G
c.841A>G (p.Asn281Asp)
c.1192A>G (p.Asn398Asp)
c.922A>G (p.Asn308Asp)
c.146A>G
c.1372A>G (p.Asn458Asp)
c.1306A>G (p.Asn436Asp)
c.1366A>G (p.Asn456Asp)
c.1312A>G (p.Asn438Asp)
c.1237A>G (p.Asn413Asp)
c.832A>G (p.Asn278Asp)
c.190A>G (p.Asn64Asp)
n.1615A>G
10g.71645867A>TCA377127530CDH23c.1177A>T (p.Asn393Tyr)
c.608A>T
n.1013A>T
c.841A>T (p.Asn281Tyr)
c.1192A>T (p.Asn398Tyr)
c.922A>T (p.Asn308Tyr)
c.146A>T
c.1372A>T (p.Asn458Tyr)
c.1306A>T (p.Asn436Tyr)
c.1366A>T (p.Asn456Tyr)
c.1312A>T (p.Asn438Tyr)
c.1237A>T (p.Asn413Tyr)
c.832A>T (p.Asn278Tyr)
c.190A>T (p.Asn64Tyr)
n.1615A>T
10g.71645870_71645872dupCA2609565613CDH23c.1180_1182dup (p.Asn394_Ser395insAsn)
c.611_613dup
n.1016_1018dup
c.844_846dup (p.Asn282_Ser283insAsn)
c.1195_1197dup (p.Asn399_Ser400insAsn)
c.925_927dup (p.Asn309_Ser310insAsn)
c.149_151dup
c.1375_1377dup (p.Asn459_Ser460insAsn)
c.1309_1311dup (p.Asn437_Ser438insAsn)
c.1369_1371dup (p.Asn457_Ser458insAsn)
c.1315_1317dup (p.Asn439_Ser440insAsn)
c.1240_1242dup (p.Asn414_Ser415insAsn)
c.835_837dup (p.Asn279_Ser280insAsn)
c.193_195dup (p.Asn65_Ser66insAsn)
n.1618_1620dup
 gnomAD v4
10g.71645868A=CA1918809251CDH23c.1178A= (p.Asn393=)
c.609A=
n.1014A=
c.842A= (p.Asn281=)
c.1193A= (p.Asn398=)
c.923A= (p.Asn308=)
c.147A=
c.1373A= (p.Asn458=)
c.1307A= (p.Asn436=)
c.1367A= (p.Asn456=)
c.1313A= (p.Asn438=)
c.1238A= (p.Asn413=)
c.833A= (p.Asn278=)
c.191A= (p.Asn64=)
n.1616A=
10g.71645868A>CCA377127533CDH23c.1178A>C (p.Asn393Thr)
c.609A>C
n.1014A>C
c.842A>C (p.Asn281Thr)
c.1193A>C (p.Asn398Thr)
c.923A>C (p.Asn308Thr)
c.147A>C
c.1373A>C (p.Asn458Thr)
c.1307A>C (p.Asn436Thr)
c.1367A>C (p.Asn456Thr)
c.1313A>C (p.Asn438Thr)
c.1238A>C (p.Asn413Thr)
c.833A>C (p.Asn278Thr)
c.191A>C (p.Asn64Thr)
n.1616A>C
 dbSNP gnomAD v2 gnomAD v4
10g.71645868A>GCA377127534CDH23c.1178A>G (p.Asn393Ser)
c.609A>G
n.1014A>G
c.842A>G (p.Asn281Ser)
c.1193A>G (p.Asn398Ser)
c.923A>G (p.Asn308Ser)
c.147A>G
c.1373A>G (p.Asn458Ser)
c.1307A>G (p.Asn436Ser)
c.1367A>G (p.Asn456Ser)
c.1313A>G (p.Asn438Ser)
c.1238A>G (p.Asn413Ser)
c.833A>G (p.Asn278Ser)
c.191A>G (p.Asn64Ser)
n.1616A>G
 gnomAD v4
10g.71645868A>TCA377127536CDH23c.1178A>T (p.Asn393Ile)
c.609A>T
n.1014A>T
c.842A>T (p.Asn281Ile)
c.1193A>T (p.Asn398Ile)
c.923A>T (p.Asn308Ile)
c.147A>T
c.1373A>T (p.Asn458Ile)
c.1307A>T (p.Asn436Ile)
c.1367A>T (p.Asn456Ile)
c.1313A>T (p.Asn438Ile)
c.1238A>T (p.Asn413Ile)
c.833A>T (p.Asn278Ile)
c.191A>T (p.Asn64Ile)
n.1616A>T
10g.71645869delCA2609565614CDH23c.1179del (p.Asn393LysfsTer?)
c.610del
n.1015del
c.843del (p.Asn281LysfsTer?)
c.1194del (p.Asn398LysfsTer?)
c.924del (p.Asn308LysfsTer?)
c.148del
c.1374del (p.Asn458LysfsTer?)
c.1308del (p.Asn436LysfsTer?)
c.1368del (p.Asn456LysfsTer?)
c.1314del (p.Asn438LysfsTer?)
c.1239del (p.Asn413LysfsTer?)
c.834del (p.Asn278LysfsTer?)
c.192del (p.Asn64LysfsTer?)
n.1617del
 ClinVar gnomAD v4
10g.71645869C>ACA5543725CDH23c.1179C>A (p.Asn393Lys)
c.610C>A
n.1015C>A
c.843C>A (p.Asn281Lys)
c.1194C>A (p.Asn398Lys)
c.924C>A (p.Asn308Lys)
c.148C>A
c.1374C>A (p.Asn458Lys)
c.1308C>A (p.Asn436Lys)
c.1368C>A (p.Asn456Lys)
c.1314C>A (p.Asn438Lys)
c.1239C>A (p.Asn413Lys)
c.834C>A (p.Asn278Lys)
c.192C>A (p.Asn64Lys)
n.1617C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71645869C=CA1918809252CDH23c.1179C= (p.Asn393=)
c.610C=
n.1015C=
c.843C= (p.Asn281=)
c.1194C= (p.Asn398=)
c.924C= (p.Asn308=)
c.148C=
c.1374C= (p.Asn458=)
c.1308C= (p.Asn436=)
c.1368C= (p.Asn456=)
c.1314C= (p.Asn438=)
c.1239C= (p.Asn413=)
c.834C= (p.Asn278=)
c.192C= (p.Asn64=)
n.1617C=
10g.71645869C>GCA377127538CDH23c.1179C>G (p.Asn393Lys)
c.610C>G
n.1015C>G
c.843C>G (p.Asn281Lys)
c.1194C>G (p.Asn398Lys)
c.924C>G (p.Asn308Lys)
c.148C>G
c.1374C>G (p.Asn458Lys)
c.1308C>G (p.Asn436Lys)
c.1368C>G (p.Asn456Lys)
c.1314C>G (p.Asn438Lys)
c.1239C>G (p.Asn413Lys)
c.834C>G (p.Asn278Lys)
c.192C>G (p.Asn64Lys)
n.1617C>G
10g.71645869C>TCA470057959CDH23c.1179C>T (p.Asn393=)
c.610C>T
n.1015C>T
c.843C>T (p.Asn281=)
c.1194C>T (p.Asn398=)
c.924C>T (p.Asn308=)
c.148C>T
c.1374C>T (p.Asn458=)
c.1308C>T (p.Asn436=)
c.1368C>T (p.Asn456=)
c.1314C>T (p.Asn438=)
c.1239C>T (p.Asn413=)
c.834C>T (p.Asn278=)
c.192C>T (p.Asn64=)
n.1617C>T
 ClinVar dbSNP gnomAD v4
10g.71645870A>CCA377127540CDH23c.1180A>C (p.Asn394His)
c.611A>C
n.1016A>C
c.844A>C (p.Asn282His)
c.1195A>C (p.Asn399His)
c.925A>C (p.Asn309His)
c.149A>C
c.1375A>C (p.Asn459His)
c.1309A>C (p.Asn437His)
c.1369A>C (p.Asn457His)
c.1315A>C (p.Asn439His)
c.1240A>C (p.Asn414His)
c.835A>C (p.Asn279His)
c.193A>C (p.Asn65His)
n.1618A>C
10g.71645870A>GCA377127542CDH23c.1180A>G (p.Asn394Asp)
c.611A>G
n.1016A>G
c.844A>G (p.Asn282Asp)
c.1195A>G (p.Asn399Asp)
c.925A>G (p.Asn309Asp)
c.149A>G
c.1375A>G (p.Asn459Asp)
c.1309A>G (p.Asn437Asp)
c.1369A>G (p.Asn457Asp)
c.1315A>G (p.Asn439Asp)
c.1240A>G (p.Asn414Asp)
c.835A>G (p.Asn279Asp)
c.193A>G (p.Asn65Asp)
n.1618A>G
10g.71645870A>TCA377127544CDH23c.1180A>T (p.Asn394Tyr)
c.611A>T
n.1016A>T
c.844A>T (p.Asn282Tyr)
c.1195A>T (p.Asn399Tyr)
c.925A>T (p.Asn309Tyr)
c.149A>T
c.1375A>T (p.Asn459Tyr)
c.1309A>T (p.Asn437Tyr)
c.1369A>T (p.Asn457Tyr)
c.1315A>T (p.Asn439Tyr)
c.1240A>T (p.Asn414Tyr)
c.835A>T (p.Asn279Tyr)
c.193A>T (p.Asn65Tyr)
n.1618A>T
10g.71645871A=CA1918809253CDH23c.1181A= (p.Asn394=)
c.612A=
n.1017A=
c.845A= (p.Asn282=)
c.1196A= (p.Asn399=)
c.926A= (p.Asn309=)
c.150A=
c.1376A= (p.Asn459=)
c.1310A= (p.Asn437=)
c.1370A= (p.Asn457=)
c.1316A= (p.Asn439=)
c.1241A= (p.Asn414=)
c.836A= (p.Asn279=)
c.194A= (p.Asn65=)
n.1619A=
10g.71645871A>CCA377127547CDH23c.1181A>C (p.Asn394Thr)
c.612A>C
n.1017A>C
c.845A>C (p.Asn282Thr)
c.1196A>C (p.Asn399Thr)
c.926A>C (p.Asn309Thr)
c.150A>C
c.1376A>C (p.Asn459Thr)
c.1310A>C (p.Asn437Thr)
c.1370A>C (p.Asn457Thr)
c.1316A>C (p.Asn439Thr)
c.1241A>C (p.Asn414Thr)
c.836A>C (p.Asn279Thr)
c.194A>C (p.Asn65Thr)
n.1619A>C
 dbSNP
10g.71645871A>GCA377127548CDH23c.1181A>G (p.Asn394Ser)
c.612A>G
n.1017A>G
c.845A>G (p.Asn282Ser)
c.1196A>G (p.Asn399Ser)
c.926A>G (p.Asn309Ser)
c.150A>G
c.1376A>G (p.Asn459Ser)
c.1310A>G (p.Asn437Ser)
c.1370A>G (p.Asn457Ser)
c.1316A>G (p.Asn439Ser)
c.1241A>G (p.Asn414Ser)
c.836A>G (p.Asn279Ser)
c.194A>G (p.Asn65Ser)
n.1619A>G
10g.71645871A>TCA377127550CDH23c.1181A>T (p.Asn394Ile)
c.612A>T
n.1017A>T
c.845A>T (p.Asn282Ile)
c.1196A>T (p.Asn399Ile)
c.926A>T (p.Asn309Ile)
c.150A>T
c.1376A>T (p.Asn459Ile)
c.1310A>T (p.Asn437Ile)
c.1370A>T (p.Asn457Ile)
c.1316A>T (p.Asn439Ile)
c.1241A>T (p.Asn414Ile)
c.836A>T (p.Asn279Ile)
c.194A>T (p.Asn65Ile)
n.1619A>T
 gnomAD v4
10g.71645872C>ACA377127552CDH23c.1182C>A (p.Asn394Lys)
c.613C>A
n.1018C>A
c.846C>A (p.Asn282Lys)
c.1197C>A (p.Asn399Lys)
c.927C>A (p.Asn309Lys)
c.151C>A
c.1377C>A (p.Asn459Lys)
c.1311C>A (p.Asn437Lys)
c.1371C>A (p.Asn457Lys)
c.1317C>A (p.Asn439Lys)
c.1242C>A (p.Asn414Lys)
c.837C>A (p.Asn279Lys)
c.195C>A (p.Asn65Lys)
n.1620C>A
10g.71645872C=CA1918809254CDH23c.1182C= (p.Asn394=)
c.613C=
n.1018C=
c.846C= (p.Asn282=)
c.1197C= (p.Asn399=)
c.927C= (p.Asn309=)
c.151C=
c.1377C= (p.Asn459=)
c.1311C= (p.Asn437=)
c.1371C= (p.Asn457=)
c.1317C= (p.Asn439=)
c.1242C= (p.Asn414=)
c.837C= (p.Asn279=)
c.195C= (p.Asn65=)
n.1620C=
10g.71645872C>GCA377127554CDH23c.1182C>G (p.Asn394Lys)
c.613C>G
n.1018C>G
c.846C>G (p.Asn282Lys)
c.1197C>G (p.Asn399Lys)
c.927C>G (p.Asn309Lys)
c.151C>G
c.1377C>G (p.Asn459Lys)
c.1311C>G (p.Asn437Lys)
c.1371C>G (p.Asn457Lys)
c.1317C>G (p.Asn439Lys)
c.1242C>G (p.Asn414Lys)
c.837C>G (p.Asn279Lys)
c.195C>G (p.Asn65Lys)
n.1620C>G
10g.71645872C>TCA5543726CDH23c.1182C>T (p.Asn394=)
c.613C>T
n.1018C>T
c.846C>T (p.Asn282=)
c.1197C>T (p.Asn399=)
c.927C>T (p.Asn309=)
c.151C>T
c.1377C>T (p.Asn459=)
c.1311C>T (p.Asn437=)
c.1371C>T (p.Asn457=)
c.1317C>T (p.Asn439=)
c.1242C>T (p.Asn414=)
c.837C>T (p.Asn279=)
c.195C>T (p.Asn65=)
n.1620C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71645873T>ACA377127557CDH23c.1183T>A (p.Ser395Thr)
c.614T>A
n.1019T>A
c.847T>A (p.Ser283Thr)
c.1198T>A (p.Ser400Thr)
c.928T>A (p.Ser310Thr)
c.152T>A
c.1378T>A (p.Ser460Thr)
c.1312T>A (p.Ser438Thr)
c.1372T>A (p.Ser458Thr)
c.1318T>A (p.Ser440Thr)
c.1243T>A (p.Ser415Thr)
c.838T>A (p.Ser280Thr)
c.196T>A (p.Ser66Thr)
n.1621T>A
 dbSNP gnomAD v3 gnomAD v4
10g.71645873T>CCA377127559CDH23c.1183T>C (p.Ser395Pro)
c.614T>C
n.1019T>C
c.847T>C (p.Ser283Pro)
c.1198T>C (p.Ser400Pro)
c.928T>C (p.Ser310Pro)
c.152T>C
c.1378T>C (p.Ser460Pro)
c.1312T>C (p.Ser438Pro)
c.1372T>C (p.Ser458Pro)
c.1318T>C (p.Ser440Pro)
c.1243T>C (p.Ser415Pro)
c.838T>C (p.Ser280Pro)
c.196T>C (p.Ser66Pro)
n.1621T>C
10g.71645873T>GCA377127560CDH23c.1183T>G (p.Ser395Ala)
c.614T>G
n.1019T>G
c.847T>G (p.Ser283Ala)
c.1198T>G (p.Ser400Ala)
c.928T>G (p.Ser310Ala)
c.152T>G
c.1378T>G (p.Ser460Ala)
c.1312T>G (p.Ser438Ala)
c.1372T>G (p.Ser458Ala)
c.1318T>G (p.Ser440Ala)
c.1243T>G (p.Ser415Ala)
c.838T>G (p.Ser280Ala)
c.196T>G (p.Ser66Ala)
n.1621T>G
10g.71645873T=CA1918809255CDH23c.1183T= (p.Ser395=)
c.614T=
n.1019T=
c.847T= (p.Ser283=)
c.1198T= (p.Ser400=)
c.928T= (p.Ser310=)
c.152T=
c.1378T= (p.Ser460=)
c.1312T= (p.Ser438=)
c.1372T= (p.Ser458=)
c.1318T= (p.Ser440=)
c.1243T= (p.Ser415=)
c.838T= (p.Ser280=)
c.196T= (p.Ser66=)
n.1621T=
10g.71645874C>ACA377127563CDH23c.1184C>A (p.Ser395Tyr)
c.615C>A
n.1020C>A
c.848C>A (p.Ser283Tyr)
c.1199C>A (p.Ser400Tyr)
c.929C>A (p.Ser310Tyr)
c.153C>A
c.1379C>A (p.Ser460Tyr)
c.1313C>A (p.Ser438Tyr)
c.1373C>A (p.Ser458Tyr)
c.1319C>A (p.Ser440Tyr)
c.1244C>A (p.Ser415Tyr)
c.839C>A (p.Ser280Tyr)
c.197C>A (p.Ser66Tyr)
n.1622C>A
10g.71645874C=CA1918809256CDH23c.1184C= (p.Ser395=)
c.615C=
n.1020C=
c.848C= (p.Ser283=)
c.1199C= (p.Ser400=)
c.929C= (p.Ser310=)
c.153C=
c.1379C= (p.Ser460=)
c.1313C= (p.Ser438=)
c.1373C= (p.Ser458=)
c.1319C= (p.Ser440=)
c.1244C= (p.Ser415=)
c.839C= (p.Ser280=)
c.197C= (p.Ser66=)
n.1622C=
10g.71645874C>GCA377127567CDH23c.1184C>G (p.Ser395Cys)
c.615C>G
n.1020C>G
c.848C>G (p.Ser283Cys)
c.1199C>G (p.Ser400Cys)
c.929C>G (p.Ser310Cys)
c.153C>G
c.1379C>G (p.Ser460Cys)
c.1313C>G (p.Ser438Cys)
c.1373C>G (p.Ser458Cys)
c.1319C>G (p.Ser440Cys)
c.1244C>G (p.Ser415Cys)
c.839C>G (p.Ser280Cys)
c.197C>G (p.Ser66Cys)
n.1622C>G
 ClinVar
10g.71645874C>TCA377127565CDH23c.1184C>T (p.Ser395Phe)
c.615C>T
n.1020C>T
c.848C>T (p.Ser283Phe)
c.1199C>T (p.Ser400Phe)
c.929C>T (p.Ser310Phe)
c.153C>T
c.1379C>T (p.Ser460Phe)
c.1313C>T (p.Ser438Phe)
c.1373C>T (p.Ser458Phe)
c.1319C>T (p.Ser440Phe)
c.1244C>T (p.Ser415Phe)
c.839C>T (p.Ser280Phe)
c.197C>T (p.Ser66Phe)
n.1622C>T
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
10g.71645875C>ACA470057960CDH23c.1185C>A (p.Ser395=)
c.616C>A
n.1021C>A
c.849C>A (p.Ser283=)
c.1200C>A (p.Ser400=)
c.930C>A (p.Ser310=)
c.154C>A
c.1380C>A (p.Ser460=)
c.1314C>A (p.Ser438=)
c.1374C>A (p.Ser458=)
c.1320C>A (p.Ser440=)
c.1245C>A (p.Ser415=)
c.840C>A (p.Ser280=)
c.198C>A (p.Ser66=)
n.1623C>A
10g.71645875C=CA1918809257CDH23c.1185C= (p.Ser395=)
c.616C=
n.1021C=
c.849C= (p.Ser283=)
c.1200C= (p.Ser400=)
c.930C= (p.Ser310=)
c.154C=
c.1380C= (p.Ser460=)
c.1314C= (p.Ser438=)
c.1374C= (p.Ser458=)
c.1320C= (p.Ser440=)
c.1245C= (p.Ser415=)
c.840C= (p.Ser280=)
c.198C= (p.Ser66=)
n.1623C=
10g.71645875C>GCA470057961CDH23c.1185C>G (p.Ser395=)
c.616C>G
n.1021C>G
c.849C>G (p.Ser283=)
c.1200C>G (p.Ser400=)
c.930C>G (p.Ser310=)
c.154C>G
c.1380C>G (p.Ser460=)
c.1314C>G (p.Ser438=)
c.1374C>G (p.Ser458=)
c.1320C>G (p.Ser440=)
c.1245C>G (p.Ser415=)
c.840C>G (p.Ser280=)
c.198C>G (p.Ser66=)
n.1623C>G
10g.71645875C>TCA137261CDH23c.1185C>T (p.Ser395=)
c.616C>T
n.1021C>T
c.849C>T (p.Ser283=)
c.1200C>T (p.Ser400=)
c.930C>T (p.Ser310=)
c.154C>T
c.1380C>T (p.Ser460=)
c.1314C>T (p.Ser438=)
c.1374C>T (p.Ser458=)
c.1320C>T (p.Ser440=)
c.1245C>T (p.Ser415=)
c.840C>T (p.Ser280=)
c.198C>T (p.Ser66=)
n.1623C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71645876C>ACA377127570CDH23c.1186C>A (p.His396Asn)
c.617C>A
n.1022C>A
c.850C>A (p.His284Asn)
c.1201C>A (p.His401Asn)
c.931C>A (p.His311Asn)
c.155C>A
c.1381C>A (p.His461Asn)
c.1315C>A (p.His439Asn)
c.1375C>A (p.His459Asn)
c.1321C>A (p.His441Asn)
c.1246C>A (p.His416Asn)
c.841C>A (p.His281Asn)
c.199C>A (p.His67Asn)
n.1624C>A
10g.71645876C>GCA377127572CDH23c.1186C>G (p.His396Asp)
c.617C>G
n.1022C>G
c.850C>G (p.His284Asp)
c.1201C>G (p.His401Asp)
c.931C>G (p.His311Asp)
c.155C>G
c.1381C>G (p.His461Asp)
c.1315C>G (p.His439Asp)
c.1375C>G (p.His459Asp)
c.1321C>G (p.His441Asp)
c.1246C>G (p.His416Asp)
c.841C>G (p.His281Asp)
c.199C>G (p.His67Asp)
n.1624C>G
10g.71645876C>TCA377127573CDH23c.1186C>T (p.His396Tyr)
c.617C>T
n.1022C>T
c.850C>T (p.His284Tyr)
c.1201C>T (p.His401Tyr)
c.931C>T (p.His311Tyr)
c.155C>T
c.1381C>T (p.His461Tyr)
c.1315C>T (p.His439Tyr)
c.1375C>T (p.His459Tyr)
c.1321C>T (p.His441Tyr)
c.1246C>T (p.His416Tyr)
c.841C>T (p.His281Tyr)
c.199C>T (p.His67Tyr)
n.1624C>T
 gnomAD v4
10g.71645877A>CCA377127576CDH23c.1187A>C (p.His396Pro)
c.618A>C
n.1023A>C
c.851A>C (p.His284Pro)
c.1202A>C (p.His401Pro)
c.932A>C (p.His311Pro)
c.156A>C
c.1382A>C (p.His461Pro)
c.1316A>C (p.His439Pro)
c.1376A>C (p.His459Pro)
c.1322A>C (p.His441Pro)
c.1247A>C (p.His416Pro)
c.842A>C (p.His281Pro)
c.200A>C (p.His67Pro)
n.1625A>C
10g.71645877A>GCA377127578CDH23c.1187A>G (p.His396Arg)
c.618A>G
n.1023A>G
c.851A>G (p.His284Arg)
c.1202A>G (p.His401Arg)
c.932A>G (p.His311Arg)
c.156A>G
c.1382A>G (p.His461Arg)
c.1316A>G (p.His439Arg)
c.1376A>G (p.His459Arg)
c.1322A>G (p.His441Arg)
c.1247A>G (p.His416Arg)
c.842A>G (p.His281Arg)
c.200A>G (p.His67Arg)
n.1625A>G
10g.71645877A>TCA377127580CDH23c.1187A>T (p.His396Leu)
c.618A>T
n.1023A>T
c.851A>T (p.His284Leu)
c.1202A>T (p.His401Leu)
c.932A>T (p.His311Leu)
c.156A>T
c.1382A>T (p.His461Leu)
c.1316A>T (p.His439Leu)
c.1376A>T (p.His459Leu)
c.1322A>T (p.His441Leu)
c.1247A>T (p.His416Leu)
c.842A>T (p.His281Leu)
c.200A>T (p.His67Leu)
n.1625A>T
10g.71645878C>ACA377127582CDH23c.1188C>A (p.His396Gln)
c.619C>A
n.1024C>A
c.852C>A (p.His284Gln)
c.1203C>A (p.His401Gln)
c.933C>A (p.His311Gln)
c.157C>A
c.1383C>A (p.His461Gln)
c.1317C>A (p.His439Gln)
c.1377C>A (p.His459Gln)
c.1323C>A (p.His441Gln)
c.1248C>A (p.His416Gln)
c.843C>A (p.His281Gln)
c.201C>A (p.His67Gln)
n.1626C>A
 gnomAD v4
10g.71645878C=CA1918809258CDH23c.1188C= (p.His396=)
c.619C=
n.1024C=
c.852C= (p.His284=)
c.1203C= (p.His401=)
c.933C= (p.His311=)
c.157C=
c.1383C= (p.His461=)
c.1317C= (p.His439=)
c.1377C= (p.His459=)
c.1323C= (p.His441=)
c.1248C= (p.His416=)
c.843C= (p.His281=)
c.201C= (p.His67=)
n.1626C=
10g.71645878C>GCA377127583CDH23c.1188C>G (p.His396Gln)
c.619C>G
n.1024C>G
c.852C>G (p.His284Gln)
c.1203C>G (p.His401Gln)
c.933C>G (p.His311Gln)
c.157C>G
c.1383C>G (p.His461Gln)
c.1317C>G (p.His439Gln)
c.1377C>G (p.His459Gln)
c.1323C>G (p.His441Gln)
c.1248C>G (p.His416Gln)
c.843C>G (p.His281Gln)
c.201C>G (p.His67Gln)
n.1626C>G
10g.71645878C>TCA470057962CDH23c.1188C>T (p.His396=)
c.619C>T
n.1024C>T
c.852C>T (p.His284=)
c.1203C>T (p.His401=)
c.933C>T (p.His311=)
c.157C>T
c.1383C>T (p.His461=)
c.1317C>T (p.His439=)
c.1377C>T (p.His459=)
c.1323C>T (p.His441=)
c.1248C>T (p.His416=)
c.843C>T (p.His281=)
c.201C>T (p.His67=)
n.1626C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71645879C>ACA377127586CDH23c.1189C>A (p.His397Asn)
c.620C>A
n.1025C>A
c.853C>A (p.His285Asn)
c.1204C>A (p.His402Asn)
c.934C>A (p.His312Asn)
c.158C>A
c.1384C>A (p.His462Asn)
c.1318C>A (p.His440Asn)
c.1378C>A (p.His460Asn)
c.1324C>A (p.His442Asn)
c.1249C>A (p.His417Asn)
c.844C>A (p.His282Asn)
c.202C>A (p.His68Asn)
n.1627C>A
10g.71645879C>GCA377127588CDH23c.1189C>G (p.His397Asp)
c.620C>G
n.1025C>G
c.853C>G (p.His285Asp)
c.1204C>G (p.His402Asp)
c.934C>G (p.His312Asp)
c.158C>G
c.1384C>G (p.His462Asp)
c.1318C>G (p.His440Asp)
c.1378C>G (p.His460Asp)
c.1324C>G (p.His442Asp)
c.1249C>G (p.His417Asp)
c.844C>G (p.His282Asp)
c.202C>G (p.His68Asp)
n.1627C>G
10g.71645879C>TCA377127589CDH23c.1189C>T (p.His397Tyr)
c.620C>T
n.1025C>T
c.853C>T (p.His285Tyr)
c.1204C>T (p.His402Tyr)
c.934C>T (p.His312Tyr)
c.158C>T
c.1384C>T (p.His462Tyr)
c.1318C>T (p.His440Tyr)
c.1378C>T (p.His460Tyr)
c.1324C>T (p.His442Tyr)
c.1249C>T (p.His417Tyr)
c.844C>T (p.His282Tyr)
c.202C>T (p.His68Tyr)
n.1627C>T
 gnomAD v4
10g.71645880A>CCA377127595CDH23c.1190A>C (p.His397Pro)
c.621A>C
n.1026A>C
c.854A>C (p.His285Pro)
c.1205A>C (p.His402Pro)
c.935A>C (p.His312Pro)
c.159A>C
c.1385A>C (p.His462Pro)
c.1319A>C (p.His440Pro)
c.1379A>C (p.His460Pro)
c.1325A>C (p.His442Pro)
c.1250A>C (p.His417Pro)
c.845A>C (p.His282Pro)
c.203A>C (p.His68Pro)
n.1628A>C
10g.71645880A>GCA377127592CDH23c.1190A>G (p.His397Arg)
c.621A>G
n.1026A>G
c.854A>G (p.His285Arg)
c.1205A>G (p.His402Arg)
c.935A>G (p.His312Arg)
c.159A>G
c.1385A>G (p.His462Arg)
c.1319A>G (p.His440Arg)
c.1379A>G (p.His460Arg)
c.1325A>G (p.His442Arg)
c.1250A>G (p.His417Arg)
c.845A>G (p.His282Arg)
c.203A>G (p.His68Arg)
n.1628A>G
10g.71645880A>TCA377127593CDH23c.1190A>T (p.His397Leu)
c.621A>T
n.1026A>T
c.854A>T (p.His285Leu)
c.1205A>T (p.His402Leu)
c.935A>T (p.His312Leu)
c.159A>T
c.1385A>T (p.His462Leu)
c.1319A>T (p.His440Leu)
c.1379A>T (p.His460Leu)
c.1325A>T (p.His442Leu)
c.1250A>T (p.His417Leu)
c.845A>T (p.His282Leu)
c.203A>T (p.His68Leu)
n.1628A>T
10g.71645881C>ACA377127598CDH23c.1191C>A (p.His397Gln)
c.622C>A
n.1027C>A
c.855C>A (p.His285Gln)
c.1206C>A (p.His402Gln)
c.936C>A (p.His312Gln)
c.160C>A
c.1386C>A (p.His462Gln)
c.1320C>A (p.His440Gln)
c.1380C>A (p.His460Gln)
c.1326C>A (p.His442Gln)
c.1251C>A (p.His417Gln)
c.846C>A (p.His282Gln)
c.204C>A (p.His68Gln)
n.1629C>A
10g.71645881C=CA1918809259CDH23c.1191C= (p.His397=)
c.622C=
n.1027C=
c.855C= (p.His285=)
c.1206C= (p.His402=)
c.936C= (p.His312=)
c.160C=
c.1386C= (p.His462=)
c.1320C= (p.His440=)
c.1380C= (p.His460=)
c.1326C= (p.His442=)
c.1251C= (p.His417=)
c.846C= (p.His282=)
c.204C= (p.His68=)
n.1629C=
10g.71645881C>GCA377127599CDH23c.1191C>G (p.His397Gln)
c.622C>G
n.1027C>G
c.855C>G (p.His285Gln)
c.1206C>G (p.His402Gln)
c.936C>G (p.His312Gln)
c.160C>G
c.1386C>G (p.His462Gln)
c.1320C>G (p.His440Gln)
c.1380C>G (p.His460Gln)
c.1326C>G (p.His442Gln)
c.1251C>G (p.His417Gln)
c.846C>G (p.His282Gln)
c.204C>G (p.His68Gln)
n.1629C>G
 dbSNP gnomAD v3 gnomAD v4
10g.71645881C>TCA5543727CDH23c.1191C>T (p.His397=)
c.622C>T
n.1027C>T
c.855C>T (p.His285=)
c.1206C>T (p.His402=)
c.936C>T (p.His312=)
c.160C>T
c.1386C>T (p.His462=)
c.1320C>T (p.His440=)
c.1380C>T (p.His460=)
c.1326C>T (p.His442=)
c.1251C>T (p.His417=)
c.846C>T (p.His282=)
c.204C>T (p.His68=)
n.1629C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71645882T>ACA377127603CDH23c.1192T>A (p.Phe398Ile)
c.623T>A
n.1028T>A
c.856T>A (p.Phe286Ile)
c.1207T>A (p.Phe403Ile)
c.937T>A (p.Phe313Ile)
c.161T>A
c.1387T>A (p.Phe463Ile)
c.1321T>A (p.Phe441Ile)
c.1381T>A (p.Phe461Ile)
c.1327T>A (p.Phe443Ile)
c.1252T>A (p.Phe418Ile)
c.847T>A (p.Phe283Ile)
c.205T>A (p.Phe69Ile)
n.1630T>A
10g.71645882T>CCA377127605CDH23c.1192T>C (p.Phe398Leu)
c.623T>C
n.1028T>C
c.856T>C (p.Phe286Leu)
c.1207T>C (p.Phe403Leu)
c.937T>C (p.Phe313Leu)
c.161T>C
c.1387T>C (p.Phe463Leu)
c.1321T>C (p.Phe441Leu)
c.1381T>C (p.Phe461Leu)
c.1327T>C (p.Phe443Leu)
c.1252T>C (p.Phe418Leu)
c.847T>C (p.Phe283Leu)
c.205T>C (p.Phe69Leu)
n.1630T>C
10g.71645882T>GCA377127607CDH23c.1192T>G (p.Phe398Val)
c.623T>G
n.1028T>G
c.856T>G (p.Phe286Val)
c.1207T>G (p.Phe403Val)
c.937T>G (p.Phe313Val)
c.161T>G
c.1387T>G (p.Phe463Val)
c.1321T>G (p.Phe441Val)
c.1381T>G (p.Phe461Val)
c.1327T>G (p.Phe443Val)
c.1252T>G (p.Phe418Val)
c.847T>G (p.Phe283Val)
c.205T>G (p.Phe69Val)
n.1630T>G
10g.71645883T>ACA377127609CDH23c.1193T>A (p.Phe398Tyr)
c.624T>A
n.1029T>A
c.857T>A (p.Phe286Tyr)
c.1208T>A (p.Phe403Tyr)
c.938T>A (p.Phe313Tyr)
c.162T>A
c.1388T>A (p.Phe463Tyr)
c.1322T>A (p.Phe441Tyr)
c.1382T>A (p.Phe461Tyr)
c.1328T>A (p.Phe443Tyr)
c.1253T>A (p.Phe418Tyr)
c.848T>A (p.Phe283Tyr)
c.206T>A (p.Phe69Tyr)
n.1631T>A
10g.71645883T>CCA377127611CDH23c.1193T>C (p.Phe398Ser)
c.624T>C
n.1029T>C
c.857T>C (p.Phe286Ser)
c.1208T>C (p.Phe403Ser)
c.938T>C (p.Phe313Ser)
c.162T>C
c.1388T>C (p.Phe463Ser)
c.1322T>C (p.Phe441Ser)
c.1382T>C (p.Phe461Ser)
c.1328T>C (p.Phe443Ser)
c.1253T>C (p.Phe418Ser)
c.848T>C (p.Phe283Ser)
c.206T>C (p.Phe69Ser)
n.1631T>C
10g.71645883T>GCA377127613CDH23c.1193T>G (p.Phe398Cys)
c.624T>G
n.1029T>G
c.857T>G (p.Phe286Cys)
c.1208T>G (p.Phe403Cys)
c.938T>G (p.Phe313Cys)
c.162T>G
c.1388T>G (p.Phe463Cys)
c.1322T>G (p.Phe441Cys)
c.1382T>G (p.Phe461Cys)
c.1328T>G (p.Phe443Cys)
c.1253T>G (p.Phe418Cys)
c.848T>G (p.Phe283Cys)
c.206T>G (p.Phe69Cys)
n.1631T>G
10g.71645884C>ACA377127616CDH23c.1194C>A (p.Phe398Leu)
c.625C>A
n.1030C>A
c.858C>A (p.Phe286Leu)
c.1209C>A (p.Phe403Leu)
c.939C>A (p.Phe313Leu)
c.163C>A
c.1389C>A (p.Phe463Leu)
c.1323C>A (p.Phe441Leu)
c.1383C>A (p.Phe461Leu)
c.1329C>A (p.Phe443Leu)
c.1254C>A (p.Phe418Leu)
c.849C>A (p.Phe283Leu)
c.207C>A (p.Phe69Leu)
n.1632C>A
10g.71645884C>GCA377127618CDH23c.1194C>G (p.Phe398Leu)
c.625C>G
n.1030C>G
c.858C>G (p.Phe286Leu)
c.1209C>G (p.Phe403Leu)
c.939C>G (p.Phe313Leu)
c.163C>G
c.1389C>G (p.Phe463Leu)
c.1323C>G (p.Phe441Leu)
c.1383C>G (p.Phe461Leu)
c.1329C>G (p.Phe443Leu)
c.1254C>G (p.Phe418Leu)
c.849C>G (p.Phe283Leu)
c.207C>G (p.Phe69Leu)
n.1632C>G
10g.71645884C>TCA470057966CDH23c.1194C>T (p.Phe398=)
c.625C>T
n.1030C>T
c.858C>T (p.Phe286=)
c.1209C>T (p.Phe403=)
c.939C>T (p.Phe313=)
c.163C>T
c.1389C>T (p.Phe463=)
c.1323C>T (p.Phe441=)
c.1383C>T (p.Phe461=)
c.1329C>T (p.Phe443=)
c.1254C>T (p.Phe418=)
c.849C>T (p.Phe283=)
c.207C>T (p.Phe69=)
n.1632C>T
10g.71645885A=CA1918809260CDH23c.1195A= (p.Ile399=)
c.626A=
n.1031A=
c.859A= (p.Ile287=)
c.1210A= (p.Ile404=)
c.940A= (p.Ile314=)
c.164A=
c.1390A= (p.Ile464=)
c.1324A= (p.Ile442=)
c.1384A= (p.Ile462=)
c.1330A= (p.Ile444=)
c.1255A= (p.Ile419=)
c.850A= (p.Ile284=)
c.208A= (p.Ile70=)
n.1633A=
10g.71645885A>CCA377127621CDH23c.1195A>C (p.Ile399Leu)
c.626A>C
n.1031A>C
c.859A>C (p.Ile287Leu)
c.1210A>C (p.Ile404Leu)
c.940A>C (p.Ile314Leu)
c.164A>C
c.1390A>C (p.Ile464Leu)
c.1324A>C (p.Ile442Leu)
c.1384A>C (p.Ile462Leu)
c.1330A>C (p.Ile444Leu)
c.1255A>C (p.Ile419Leu)
c.850A>C (p.Ile284Leu)
c.208A>C (p.Ile70Leu)
n.1633A>C
10g.71645885A>GCA377127623CDH23c.1195A>G (p.Ile399Val)
c.626A>G
n.1031A>G
c.859A>G (p.Ile287Val)
c.1210A>G (p.Ile404Val)
c.940A>G (p.Ile314Val)
c.164A>G
c.1390A>G (p.Ile464Val)
c.1324A>G (p.Ile442Val)
c.1384A>G (p.Ile462Val)
c.1330A>G (p.Ile444Val)
c.1255A>G (p.Ile419Val)
c.850A>G (p.Ile284Val)
c.208A>G (p.Ile70Val)
n.1633A>G
 gnomAD v4
10g.71645885A>TCA5543728CDH23c.1195A>T (p.Ile399Phe)
c.626A>T
n.1031A>T
c.859A>T (p.Ile287Phe)
c.1210A>T (p.Ile404Phe)
c.940A>T (p.Ile314Phe)
c.164A>T
c.1390A>T (p.Ile464Phe)
c.1324A>T (p.Ile442Phe)
c.1384A>T (p.Ile462Phe)
c.1330A>T (p.Ile444Phe)
c.1255A>T (p.Ile419Phe)
c.850A>T (p.Ile284Phe)
c.208A>T (p.Ile70Phe)
n.1633A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71645886T>ACA377127625CDH23c.1196T>A (p.Ile399Asn)
c.627T>A
n.1032T>A
c.860T>A (p.Ile287Asn)
c.1211T>A (p.Ile404Asn)
c.941T>A (p.Ile314Asn)
c.165T>A
c.1391T>A (p.Ile464Asn)
c.1325T>A (p.Ile442Asn)
c.1385T>A (p.Ile462Asn)
c.1331T>A (p.Ile444Asn)
c.1256T>A (p.Ile419Asn)
c.851T>A (p.Ile284Asn)
c.209T>A (p.Ile70Asn)
n.1634T>A
10g.71645886T>CCA377127627CDH23c.1196T>C (p.Ile399Thr)
c.627T>C
n.1032T>C
c.860T>C (p.Ile287Thr)
c.1211T>C (p.Ile404Thr)
c.941T>C (p.Ile314Thr)
c.165T>C
c.1391T>C (p.Ile464Thr)
c.1325T>C (p.Ile442Thr)
c.1385T>C (p.Ile462Thr)
c.1331T>C (p.Ile444Thr)
c.1256T>C (p.Ile419Thr)
c.851T>C (p.Ile284Thr)
c.209T>C (p.Ile70Thr)
n.1634T>C
10g.71645886T>GCA377127629CDH23c.1196T>G (p.Ile399Ser)
c.627T>G
n.1032T>G
c.860T>G (p.Ile287Ser)
c.1211T>G (p.Ile404Ser)
c.941T>G (p.Ile314Ser)
c.165T>G
c.1391T>G (p.Ile464Ser)
c.1325T>G (p.Ile442Ser)
c.1385T>G (p.Ile462Ser)
c.1331T>G (p.Ile444Ser)
c.1256T>G (p.Ile419Ser)
c.851T>G (p.Ile284Ser)
c.209T>G (p.Ile70Ser)
n.1634T>G
10g.71645887C>ACA470057967CDH23c.1197C>A (p.Ile399=)
c.628C>A
n.1033C>A
c.861C>A (p.Ile287=)
c.1212C>A (p.Ile404=)
c.942C>A (p.Ile314=)
c.166C>A
c.1392C>A (p.Ile464=)
c.1326C>A (p.Ile442=)
c.1386C>A (p.Ile462=)
c.1332C>A (p.Ile444=)
c.1257C>A (p.Ile419=)
c.852C>A (p.Ile284=)
c.210C>A (p.Ile70=)
n.1635C>A
10g.71645887C>GCA377127632CDH23c.1197C>G (p.Ile399Met)
c.628C>G
n.1033C>G
c.861C>G (p.Ile287Met)
c.1212C>G (p.Ile404Met)
c.942C>G (p.Ile314Met)
c.166C>G
c.1392C>G (p.Ile464Met)
c.1326C>G (p.Ile442Met)
c.1386C>G (p.Ile462Met)
c.1332C>G (p.Ile444Met)
c.1257C>G (p.Ile419Met)
c.852C>G (p.Ile284Met)
c.210C>G (p.Ile70Met)
n.1635C>G
10g.71645887C>TCA470057968CDH23c.1197C>T (p.Ile399=)
c.628C>T
n.1033C>T
c.861C>T (p.Ile287=)
c.1212C>T (p.Ile404=)
c.942C>T (p.Ile314=)
c.166C>T
c.1392C>T (p.Ile464=)
c.1326C>T (p.Ile442=)
c.1386C>T (p.Ile462=)
c.1332C>T (p.Ile444=)
c.1257C>T (p.Ile419=)
c.852C>T (p.Ile284=)
c.210C>T (p.Ile70=)
n.1635C>T
10g.71645888A=CA1918809261CDH23c.1198A= (p.Ile400=)
c.629A=
n.1034A=
c.862A= (p.Ile288=)
c.1213A= (p.Ile405=)
c.943A= (p.Ile315=)
c.167A=
c.1393A= (p.Ile465=)
c.1327A= (p.Ile443=)
c.1387A= (p.Ile463=)
c.1333A= (p.Ile445=)
c.1258A= (p.Ile420=)
c.853A= (p.Ile285=)
c.211A= (p.Ile71=)
n.1636A=
10g.71645888A>CCA377127633CDH23c.1198A>C (p.Ile400Leu)
c.629A>C
n.1034A>C
c.862A>C (p.Ile288Leu)
c.1213A>C (p.Ile405Leu)
c.943A>C (p.Ile315Leu)
c.167A>C
c.1393A>C (p.Ile465Leu)
c.1327A>C (p.Ile443Leu)
c.1387A>C (p.Ile463Leu)
c.1333A>C (p.Ile445Leu)
c.1258A>C (p.Ile420Leu)
c.853A>C (p.Ile285Leu)
c.211A>C (p.Ile71Leu)
n.1636A>C
 dbSNP gnomAD v3 gnomAD v4
10g.71645888A>GCA377127635CDH23c.1198A>G (p.Ile400Val)
c.629A>G
n.1034A>G
c.862A>G (p.Ile288Val)
c.1213A>G (p.Ile405Val)
c.943A>G (p.Ile315Val)
c.167A>G
c.1393A>G (p.Ile465Val)
c.1327A>G (p.Ile443Val)
c.1387A>G (p.Ile463Val)
c.1333A>G (p.Ile445Val)
c.1258A>G (p.Ile420Val)
c.853A>G (p.Ile285Val)
c.211A>G (p.Ile71Val)
n.1636A>G
 gnomAD v4
10g.71645888A>TCA5543729CDH23c.1198A>T (p.Ile400Phe)
c.629A>T
n.1034A>T
c.862A>T (p.Ile288Phe)
c.1213A>T (p.Ile405Phe)
c.943A>T (p.Ile315Phe)
c.167A>T
c.1393A>T (p.Ile465Phe)
c.1327A>T (p.Ile443Phe)
c.1387A>T (p.Ile463Phe)
c.1333A>T (p.Ile445Phe)
c.1258A>T (p.Ile420Phe)
c.853A>T (p.Ile285Phe)
c.211A>T (p.Ile71Phe)
n.1636A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71645889T>ACA377127638CDH23c.1199T>A (p.Ile400Asn)
c.630T>A
n.1035T>A
c.863T>A (p.Ile288Asn)
c.1214T>A (p.Ile405Asn)
c.944T>A (p.Ile315Asn)
c.168T>A
c.1394T>A (p.Ile465Asn)
c.1328T>A (p.Ile443Asn)
c.1388T>A (p.Ile463Asn)
c.1334T>A (p.Ile445Asn)
c.1259T>A (p.Ile420Asn)
c.854T>A (p.Ile285Asn)
c.212T>A (p.Ile71Asn)
n.1637T>A
 dbSNP gnomAD v3 gnomAD v4
10g.71645889T>CCA377127642CDH23c.1199T>C (p.Ile400Thr)
c.630T>C
n.1035T>C
c.863T>C (p.Ile288Thr)
c.1214T>C (p.Ile405Thr)
c.944T>C (p.Ile315Thr)
c.168T>C
c.1394T>C (p.Ile465Thr)
c.1328T>C (p.Ile443Thr)
c.1388T>C (p.Ile463Thr)
c.1334T>C (p.Ile445Thr)
c.1259T>C (p.Ile420Thr)
c.854T>C (p.Ile285Thr)
c.212T>C (p.Ile71Thr)
n.1637T>C
10g.71645889T>GCA377127640CDH23c.1199T>G (p.Ile400Ser)
c.630T>G
n.1035T>G
c.863T>G (p.Ile288Ser)
c.1214T>G (p.Ile405Ser)
c.944T>G (p.Ile315Ser)
c.168T>G
c.1394T>G (p.Ile465Ser)
c.1328T>G (p.Ile443Ser)
c.1388T>G (p.Ile463Ser)
c.1334T>G (p.Ile445Ser)
c.1259T>G (p.Ile420Ser)
c.854T>G (p.Ile285Ser)
c.212T>G (p.Ile71Ser)
n.1637T>G
10g.71645889T=CA1918809262CDH23c.1199T= (p.Ile400=)
c.630T=
n.1035T=
c.863T= (p.Ile288=)
c.1214T= (p.Ile405=)
c.944T= (p.Ile315=)
c.168T=
c.1394T= (p.Ile465=)
c.1328T= (p.Ile443=)
c.1388T= (p.Ile463=)
c.1334T= (p.Ile445=)
c.1259T= (p.Ile420=)
c.854T= (p.Ile285=)
c.212T= (p.Ile71=)
n.1637T=
10g.71645890C>ACA470057969CDH23c.1200C>A (p.Ile400=)
c.631C>A
n.1036C>A
c.864C>A (p.Ile288=)
c.1215C>A (p.Ile405=)
c.945C>A (p.Ile315=)
c.169C>A
c.1395C>A (p.Ile465=)
c.1329C>A (p.Ile443=)
c.1389C>A (p.Ile463=)
c.1335C>A (p.Ile445=)
c.1260C>A (p.Ile420=)
c.855C>A (p.Ile285=)
c.213C>A (p.Ile71=)
n.1638C>A
10g.71645890C>GCA377127643CDH23c.1200C>G (p.Ile400Met)
c.631C>G
n.1036C>G
c.864C>G (p.Ile288Met)
c.1215C>G (p.Ile405Met)
c.945C>G (p.Ile315Met)
c.169C>G
c.1395C>G (p.Ile465Met)
c.1329C>G (p.Ile443Met)
c.1389C>G (p.Ile463Met)
c.1335C>G (p.Ile445Met)
c.1260C>G (p.Ile420Met)
c.855C>G (p.Ile285Met)
c.213C>G (p.Ile71Met)
n.1638C>G
10g.71645890C>TCA470057970CDH23c.1200C>T (p.Ile400=)
c.631C>T
n.1036C>T
c.864C>T (p.Ile288=)
c.1215C>T (p.Ile405=)
c.945C>T (p.Ile315=)
c.169C>T
c.1395C>T (p.Ile465=)
c.1329C>T (p.Ile443=)
c.1389C>T (p.Ile463=)
c.1335C>T (p.Ile445=)
c.1260C>T (p.Ile420=)
c.855C>T (p.Ile285=)
c.213C>T (p.Ile71=)
n.1638C>T
10g.71645891T>ACA377127646CDH23c.1201T>A (p.Ser401Thr)
c.632T>A
n.1037T>A
c.865T>A (p.Ser289Thr)
c.1216T>A (p.Ser406Thr)
c.946T>A (p.Ser316Thr)
c.170T>A
c.1396T>A (p.Ser466Thr)
c.1330T>A (p.Ser444Thr)
c.1390T>A (p.Ser464Thr)
c.1336T>A (p.Ser446Thr)
c.1261T>A (p.Ser421Thr)
c.856T>A (p.Ser286Thr)
c.214T>A (p.Ser72Thr)
n.1639T>A
10g.71645891T>CCA377127648CDH23c.1201T>C (p.Ser401Pro)
c.632T>C
n.1037T>C
c.865T>C (p.Ser289Pro)
c.1216T>C (p.Ser406Pro)
c.946T>C (p.Ser316Pro)
c.170T>C
c.1396T>C (p.Ser466Pro)
c.1330T>C (p.Ser444Pro)
c.1390T>C (p.Ser464Pro)
c.1336T>C (p.Ser446Pro)
c.1261T>C (p.Ser421Pro)
c.856T>C (p.Ser286Pro)
c.214T>C (p.Ser72Pro)
n.1639T>C
 gnomAD v4
10g.71645891T>GCA377127650CDH23c.1201T>G (p.Ser401Ala)
c.632T>G
n.1037T>G
c.865T>G (p.Ser289Ala)
c.1216T>G (p.Ser406Ala)
c.946T>G (p.Ser316Ala)
c.170T>G
c.1396T>G (p.Ser466Ala)
c.1330T>G (p.Ser444Ala)
c.1390T>G (p.Ser464Ala)
c.1336T>G (p.Ser446Ala)
c.1261T>G (p.Ser421Ala)
c.856T>G (p.Ser286Ala)
c.214T>G (p.Ser72Ala)
n.1639T>G
10g.71645892C>ACA377127655CDH23c.1202C>A (p.Ser401Tyr)
c.633C>A
n.1038C>A
c.866C>A (p.Ser289Tyr)
c.1217C>A (p.Ser406Tyr)
c.947C>A (p.Ser316Tyr)
c.171C>A
c.1397C>A (p.Ser466Tyr)
c.1331C>A (p.Ser444Tyr)
c.1391C>A (p.Ser464Tyr)
c.1337C>A (p.Ser446Tyr)
c.1262C>A (p.Ser421Tyr)
c.857C>A (p.Ser286Tyr)
c.215C>A (p.Ser72Tyr)
n.1640C>A
10g.71645892C>GCA377127652CDH23c.1202C>G (p.Ser401Cys)
c.633C>G
n.1038C>G
c.866C>G (p.Ser289Cys)
c.1217C>G (p.Ser406Cys)
c.947C>G (p.Ser316Cys)
c.171C>G
c.1397C>G (p.Ser466Cys)
c.1331C>G (p.Ser444Cys)
c.1391C>G (p.Ser464Cys)
c.1337C>G (p.Ser446Cys)
c.1262C>G (p.Ser421Cys)
c.857C>G (p.Ser286Cys)
c.215C>G (p.Ser72Cys)
n.1640C>G
10g.71645892C>TCA377127653CDH23c.1202C>T (p.Ser401Phe)
c.633C>T
n.1038C>T
c.866C>T (p.Ser289Phe)
c.1217C>T (p.Ser406Phe)
c.947C>T (p.Ser316Phe)
c.171C>T
c.1397C>T (p.Ser466Phe)
c.1331C>T (p.Ser444Phe)
c.1391C>T (p.Ser464Phe)
c.1337C>T (p.Ser446Phe)
c.1262C>T (p.Ser421Phe)
c.857C>T (p.Ser286Phe)
c.215C>T (p.Ser72Phe)
n.1640C>T
 gnomAD v4
10g.71645893C>ACA470057971CDH23c.1203C>A (p.Ser401=)
c.634C>A
n.1039C>A
c.867C>A (p.Ser289=)
c.1218C>A (p.Ser406=)
c.948C>A (p.Ser316=)
c.172C>A
c.1398C>A (p.Ser466=)
c.1332C>A (p.Ser444=)
c.1392C>A (p.Ser464=)
c.1338C>A (p.Ser446=)
c.1263C>A (p.Ser421=)
c.858C>A (p.Ser286=)
c.216C>A (p.Ser72=)
n.1641C>A
10g.71645893C>GCA470057972CDH23c.1203C>G (p.Ser401=)
c.634C>G
n.1039C>G
c.867C>G (p.Ser289=)
c.1218C>G (p.Ser406=)
c.948C>G (p.Ser316=)
c.172C>G
c.1398C>G (p.Ser466=)
c.1332C>G (p.Ser444=)
c.1392C>G (p.Ser464=)
c.1338C>G (p.Ser446=)
c.1263C>G (p.Ser421=)
c.858C>G (p.Ser286=)
c.216C>G (p.Ser72=)
n.1641C>G
10g.71645893C>TCA470057973CDH23c.1203C>T (p.Ser401=)
c.634C>T
n.1039C>T
c.867C>T (p.Ser289=)
c.1218C>T (p.Ser406=)
c.948C>T (p.Ser316=)
c.172C>T
c.1398C>T (p.Ser466=)
c.1332C>T (p.Ser444=)
c.1392C>T (p.Ser464=)
c.1338C>T (p.Ser446=)
c.1263C>T (p.Ser421=)
c.858C>T (p.Ser286=)
c.216C>T (p.Ser72=)
n.1641C>T
 gnomAD v4
10g.71645894C>ACA377127658CDH23c.1204C>A (p.Pro402Thr)
c.635C>A
n.1040C>A
c.868C>A (p.Pro290Thr)
c.1219C>A (p.Pro407Thr)
c.949C>A (p.Pro317Thr)
c.173C>A
c.1399C>A (p.Pro467Thr)
c.1333C>A (p.Pro445Thr)
c.1393C>A (p.Pro465Thr)
c.1339C>A (p.Pro447Thr)
c.1264C>A (p.Pro422Thr)
c.859C>A (p.Pro287Thr)
c.217C>A (p.Pro73Thr)
n.1642C>A
10g.71645894C>GCA377127659CDH23c.1204C>G (p.Pro402Ala)
c.635C>G
n.1040C>G
c.868C>G (p.Pro290Ala)
c.1219C>G (p.Pro407Ala)
c.949C>G (p.Pro317Ala)
c.173C>G
c.1399C>G (p.Pro467Ala)
c.1333C>G (p.Pro445Ala)
c.1393C>G (p.Pro465Ala)
c.1339C>G (p.Pro447Ala)
c.1264C>G (p.Pro422Ala)
c.859C>G (p.Pro287Ala)
c.217C>G (p.Pro73Ala)
n.1642C>G
10g.71645894C>TCA377127661CDH23c.1204C>T (p.Pro402Ser)
c.635C>T
n.1040C>T
c.868C>T (p.Pro290Ser)
c.1219C>T (p.Pro407Ser)
c.949C>T (p.Pro317Ser)
c.173C>T
c.1399C>T (p.Pro467Ser)
c.1333C>T (p.Pro445Ser)
c.1393C>T (p.Pro465Ser)
c.1339C>T (p.Pro447Ser)
c.1264C>T (p.Pro422Ser)
c.859C>T (p.Pro287Ser)
c.217C>T (p.Pro73Ser)
n.1642C>T
10g.71645895C>ACA5543731CDH23c.1205C>A (p.Pro402Gln)
c.636C>A
n.1041C>A
c.869C>A (p.Pro290Gln)
c.1220C>A (p.Pro407Gln)
c.950C>A (p.Pro317Gln)
c.174C>A
c.1400C>A (p.Pro467Gln)
c.1334C>A (p.Pro445Gln)
c.1394C>A (p.Pro465Gln)
c.1340C>A (p.Pro447Gln)
c.1265C>A (p.Pro422Gln)
c.860C>A (p.Pro287Gln)
c.218C>A (p.Pro73Gln)
n.1643C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71645895C=CA1918809263CDH23c.1205C= (p.Pro402=)
c.636C=
n.1041C=
c.869C= (p.Pro290=)
c.1220C= (p.Pro407=)
c.950C= (p.Pro317=)
c.174C=
c.1400C= (p.Pro467=)
c.1334C= (p.Pro445=)
c.1394C= (p.Pro465=)
c.1340C= (p.Pro447=)
c.1265C= (p.Pro422=)
c.860C= (p.Pro287=)
c.218C= (p.Pro73=)
n.1643C=
10g.71645895C>GCA377127664CDH23c.1205C>G (p.Pro402Arg)
c.636C>G
n.1041C>G
c.869C>G (p.Pro290Arg)
c.1220C>G (p.Pro407Arg)
c.950C>G (p.Pro317Arg)
c.174C>G
c.1400C>G (p.Pro467Arg)
c.1334C>G (p.Pro445Arg)
c.1394C>G (p.Pro465Arg)
c.1340C>G (p.Pro447Arg)
c.1265C>G (p.Pro422Arg)
c.860C>G (p.Pro287Arg)
c.218C>G (p.Pro73Arg)
n.1643C>G
10g.71645895C>TCA5543730CDH23c.1205C>T (p.Pro402Leu)
c.636C>T
n.1041C>T
c.869C>T (p.Pro290Leu)
c.1220C>T (p.Pro407Leu)
c.950C>T (p.Pro317Leu)
c.174C>T
c.1400C>T (p.Pro467Leu)
c.1334C>T (p.Pro445Leu)
c.1394C>T (p.Pro465Leu)
c.1340C>T (p.Pro447Leu)
c.1265C>T (p.Pro422Leu)
c.860C>T (p.Pro287Leu)
c.218C>T (p.Pro73Leu)
n.1643C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71645896G>ACA137263CDH23c.1206G>A (p.Pro402=)
c.637G>A
n.1042G>A
c.870G>A (p.Pro290=)
c.1221G>A (p.Pro407=)
c.951G>A (p.Pro317=)
c.175G>A
c.1401G>A (p.Pro467=)
c.1335G>A (p.Pro445=)
c.1395G>A (p.Pro465=)
c.1341G>A (p.Pro447=)
c.1266G>A (p.Pro422=)
c.861G>A (p.Pro287=)
c.219G>A (p.Pro73=)
n.1644G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71645896G>CCA470057974CDH23c.1206G>C (p.Pro402=)
c.637G>C
n.1042G>C
c.870G>C (p.Pro290=)
c.1221G>C (p.Pro407=)
c.951G>C (p.Pro317=)
c.175G>C
c.1401G>C (p.Pro467=)
c.1335G>C (p.Pro445=)
c.1395G>C (p.Pro465=)
c.1341G>C (p.Pro447=)
c.1266G>C (p.Pro422=)
c.861G>C (p.Pro287=)
c.219G>C (p.Pro73=)
n.1644G>C
10g.71645896G=CA1918809264CDH23c.1206G= (p.Pro402=)
c.637G=
n.1042G=
c.870G= (p.Pro290=)
c.1221G= (p.Pro407=)
c.951G= (p.Pro317=)
c.175G=
c.1401G= (p.Pro467=)
c.1335G= (p.Pro445=)
c.1395G= (p.Pro465=)
c.1341G= (p.Pro447=)
c.1266G= (p.Pro422=)
c.861G= (p.Pro287=)
c.219G= (p.Pro73=)
n.1644G=
10g.71645896G>TCA470057975CDH23c.1206G>T (p.Pro402=)
c.637G>T
n.1042G>T
c.870G>T (p.Pro290=)
c.1221G>T (p.Pro407=)
c.951G>T (p.Pro317=)
c.175G>T
c.1401G>T (p.Pro467=)
c.1335G>T (p.Pro445=)
c.1395G>T (p.Pro465=)
c.1341G>T (p.Pro447=)
c.1266G>T (p.Pro422=)
c.861G>T (p.Pro287=)
c.219G>T (p.Pro73=)
n.1644G>T
10g.71645897A>CCA377127669CDH23c.1207A>C (p.Thr403Pro)
c.638A>C
n.1043A>C
c.871A>C (p.Thr291Pro)
c.1222A>C (p.Thr408Pro)
c.952A>C (p.Thr318Pro)
c.176A>C
c.1402A>C (p.Thr468Pro)
c.1336A>C (p.Thr446Pro)
c.1396A>C (p.Thr466Pro)
c.1342A>C (p.Thr448Pro)
c.1267A>C (p.Thr423Pro)
c.862A>C (p.Thr288Pro)
c.220A>C (p.Thr74Pro)
n.1645A>C
10g.71645897A>GCA377127671CDH23c.1207A>G (p.Thr403Ala)
c.638A>G
n.1043A>G
c.871A>G (p.Thr291Ala)
c.1222A>G (p.Thr408Ala)
c.952A>G (p.Thr318Ala)
c.176A>G
c.1402A>G (p.Thr468Ala)
c.1336A>G (p.Thr446Ala)
c.1396A>G (p.Thr466Ala)
c.1342A>G (p.Thr448Ala)
c.1267A>G (p.Thr423Ala)
c.862A>G (p.Thr288Ala)
c.220A>G (p.Thr74Ala)
n.1645A>G
10g.71645897A>TCA377127672CDH23c.1207A>T (p.Thr403Ser)
c.638A>T
n.1043A>T
c.871A>T (p.Thr291Ser)
c.1222A>T (p.Thr408Ser)
c.952A>T (p.Thr318Ser)
c.176A>T
c.1402A>T (p.Thr468Ser)
c.1336A>T (p.Thr446Ser)
c.1396A>T (p.Thr466Ser)
c.1342A>T (p.Thr448Ser)
c.1267A>T (p.Thr423Ser)
c.862A>T (p.Thr288Ser)
c.220A>T (p.Thr74Ser)
n.1645A>T
10g.71645898C>ACA377127675CDH23c.1208C>A (p.Thr403Asn)
c.639C>A
n.1044C>A
c.872C>A (p.Thr291Asn)
c.1223C>A (p.Thr408Asn)
c.953C>A (p.Thr318Asn)
c.177C>A
c.1403C>A (p.Thr468Asn)
c.1337C>A (p.Thr446Asn)
c.1397C>A (p.Thr466Asn)
c.1343C>A (p.Thr448Asn)
c.1268C>A (p.Thr423Asn)
c.863C>A (p.Thr288Asn)
c.221C>A (p.Thr74Asn)
n.1646C>A
10g.71645898C=CA1918809265CDH23c.1208C= (p.Thr403=)
c.639C=
n.1044C=
c.872C= (p.Thr291=)
c.1223C= (p.Thr408=)
c.953C= (p.Thr318=)
c.177C=
c.1403C= (p.Thr468=)
c.1337C= (p.Thr446=)
c.1397C= (p.Thr466=)
c.1343C= (p.Thr448=)
c.1268C= (p.Thr423=)
c.863C= (p.Thr288=)
c.221C= (p.Thr74=)
n.1646C=
10g.71645898C>GCA377127677CDH23c.1208C>G (p.Thr403Ser)
c.639C>G
n.1044C>G
c.872C>G (p.Thr291Ser)
c.1223C>G (p.Thr408Ser)
c.953C>G (p.Thr318Ser)
c.177C>G
c.1403C>G (p.Thr468Ser)
c.1337C>G (p.Thr446Ser)
c.1397C>G (p.Thr466Ser)
c.1343C>G (p.Thr448Ser)
c.1268C>G (p.Thr423Ser)
c.863C>G (p.Thr288Ser)
c.221C>G (p.Thr74Ser)
n.1646C>G
10g.71645898C>TCA377127679CDH23c.1208C>T (p.Thr403Ile)
c.639C>T
n.1044C>T
c.872C>T (p.Thr291Ile)
c.1223C>T (p.Thr408Ile)
c.953C>T (p.Thr318Ile)
c.177C>T
c.1403C>T (p.Thr468Ile)
c.1337C>T (p.Thr446Ile)
c.1397C>T (p.Thr466Ile)
c.1343C>T (p.Thr448Ile)
c.1268C>T (p.Thr423Ile)
c.863C>T (p.Thr288Ile)
c.221C>T (p.Thr74Ile)
n.1646C>T
 dbSNP gnomAD v4
10g.71645899C>ACA470057978CDH23c.1209C>A (p.Thr403=)
c.640C>A
n.1045C>A
c.873C>A (p.Thr291=)
c.1224C>A (p.Thr408=)
c.954C>A (p.Thr318=)
c.178C>A
c.1404C>A (p.Thr468=)
c.1338C>A (p.Thr446=)
c.1398C>A (p.Thr466=)
c.1344C>A (p.Thr448=)
c.1269C>A (p.Thr423=)
c.864C>A (p.Thr288=)
c.222C>A (p.Thr74=)
n.1647C>A
10g.71645899C>GCA470057979CDH23c.1209C>G (p.Thr403=)
c.640C>G
n.1045C>G
c.873C>G (p.Thr291=)
c.1224C>G (p.Thr408=)
c.954C>G (p.Thr318=)
c.178C>G
c.1404C>G (p.Thr468=)
c.1338C>G (p.Thr446=)
c.1398C>G (p.Thr466=)
c.1344C>G (p.Thr448=)
c.1269C>G (p.Thr423=)
c.864C>G (p.Thr288=)
c.222C>G (p.Thr74=)
n.1647C>G
10g.71645899C>TCA470057980CDH23c.1209C>T (p.Thr403=)
c.640C>T
n.1045C>T
c.873C>T (p.Thr291=)
c.1224C>T (p.Thr408=)
c.954C>T (p.Thr318=)
c.178C>T
c.1404C>T (p.Thr468=)
c.1338C>T (p.Thr446=)
c.1398C>T (p.Thr466=)
c.1344C>T (p.Thr448=)
c.1269C>T (p.Thr423=)
c.864C>T (p.Thr288=)
c.222C>T (p.Thr74=)
n.1647C>T
10g.71645900T>ACA377127682CDH23c.1210T>A (p.Ser404Thr)
c.641T>A
n.1046T>A
c.874T>A (p.Ser292Thr)
c.1225T>A (p.Ser409Thr)
c.955T>A (p.Ser319Thr)
c.179T>A
c.1405T>A (p.Ser469Thr)
c.1339T>A (p.Ser447Thr)
c.1399T>A (p.Ser467Thr)
c.1345T>A (p.Ser449Thr)
c.1270T>A (p.Ser424Thr)
c.865T>A (p.Ser289Thr)
c.223T>A (p.Ser75Thr)
n.1648T>A
10g.71645900T>CCA377127684CDH23c.1210T>C (p.Ser404Pro)
c.641T>C
n.1046T>C
c.874T>C (p.Ser292Pro)
c.1225T>C (p.Ser409Pro)
c.955T>C (p.Ser319Pro)
c.179T>C
c.1405T>C (p.Ser469Pro)
c.1339T>C (p.Ser447Pro)
c.1399T>C (p.Ser467Pro)
c.1345T>C (p.Ser449Pro)
c.1270T>C (p.Ser424Pro)
c.865T>C (p.Ser289Pro)
c.223T>C (p.Ser75Pro)
n.1648T>C
10g.71645900T>GCA377127683CDH23c.1210T>G (p.Ser404Ala)
c.641T>G
n.1046T>G
c.874T>G (p.Ser292Ala)
c.1225T>G (p.Ser409Ala)
c.955T>G (p.Ser319Ala)
c.179T>G
c.1405T>G (p.Ser469Ala)
c.1339T>G (p.Ser447Ala)
c.1399T>G (p.Ser467Ala)
c.1345T>G (p.Ser449Ala)
c.1270T>G (p.Ser424Ala)
c.865T>G (p.Ser289Ala)
c.223T>G (p.Ser75Ala)
n.1648T>G
10g.71645901C>ACA377127686CDH23c.1211C>A (p.Ser404Tyr)
c.642C>A
n.1047C>A
c.875C>A (p.Ser292Tyr)
c.1226C>A (p.Ser409Tyr)
c.956C>A (p.Ser319Tyr)
c.180C>A
c.1406C>A (p.Ser469Tyr)
c.1340C>A (p.Ser447Tyr)
c.1400C>A (p.Ser467Tyr)
c.1346C>A (p.Ser449Tyr)
c.1271C>A (p.Ser424Tyr)
c.866C>A (p.Ser289Tyr)
c.224C>A (p.Ser75Tyr)
n.1649C>A
 gnomAD v4
10g.71645901C=CA1918809266CDH23c.1211C= (p.Ser404=)
c.642C=
n.1047C=
c.875C= (p.Ser292=)
c.1226C= (p.Ser409=)
c.956C= (p.Ser319=)
c.180C=
c.1406C= (p.Ser469=)
c.1340C= (p.Ser447=)
c.1400C= (p.Ser467=)
c.1346C= (p.Ser449=)
c.1271C= (p.Ser424=)
c.866C= (p.Ser289=)
c.224C= (p.Ser75=)
n.1649C=
10g.71645901C>GCA377127687CDH23c.1211C>G (p.Ser404Cys)
c.642C>G
n.1047C>G
c.875C>G (p.Ser292Cys)
c.1226C>G (p.Ser409Cys)
c.956C>G (p.Ser319Cys)
c.180C>G
c.1406C>G (p.Ser469Cys)
c.1340C>G (p.Ser447Cys)
c.1400C>G (p.Ser467Cys)
c.1346C>G (p.Ser449Cys)
c.1271C>G (p.Ser424Cys)
c.866C>G (p.Ser289Cys)
c.224C>G (p.Ser75Cys)
n.1649C>G
10g.71645901C>TCA377127689CDH23c.1211C>T (p.Ser404Phe)
c.642C>T
n.1047C>T
c.875C>T (p.Ser292Phe)
c.1226C>T (p.Ser409Phe)
c.956C>T (p.Ser319Phe)
c.180C>T
c.1406C>T (p.Ser469Phe)
c.1340C>T (p.Ser447Phe)
c.1400C>T (p.Ser467Phe)
c.1346C>T (p.Ser449Phe)
c.1271C>T (p.Ser424Phe)
c.866C>T (p.Ser289Phe)
c.224C>T (p.Ser75Phe)
n.1649C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71645902C>ACA470057981CDH23c.1212C>A (p.Ser404=)
c.643C>A
n.1048C>A
c.876C>A (p.Ser292=)
c.1227C>A (p.Ser409=)
c.957C>A (p.Ser319=)
c.181C>A
c.1407C>A (p.Ser469=)
c.1341C>A (p.Ser447=)
c.1401C>A (p.Ser467=)
c.1347C>A (p.Ser449=)
c.1272C>A (p.Ser424=)
c.867C>A (p.Ser289=)
c.225C>A (p.Ser75=)
n.1650C>A
10g.71645902C=CA1918809267CDH23c.1212C= (p.Ser404=)
c.643C=
n.1048C=
c.876C= (p.Ser292=)
c.1227C= (p.Ser409=)
c.957C= (p.Ser319=)
c.181C=
c.1407C= (p.Ser469=)
c.1341C= (p.Ser447=)
c.1401C= (p.Ser467=)
c.1347C= (p.Ser449=)
c.1272C= (p.Ser424=)
c.867C= (p.Ser289=)
c.225C= (p.Ser75=)
n.1650C=
10g.71645902C>GCA470057982CDH23c.1212C>G (p.Ser404=)
c.643C>G
n.1048C>G
c.876C>G (p.Ser292=)
c.1227C>G (p.Ser409=)
c.957C>G (p.Ser319=)
c.181C>G
c.1407C>G (p.Ser469=)
c.1341C>G (p.Ser447=)
c.1401C>G (p.Ser467=)
c.1347C>G (p.Ser449=)
c.1272C>G (p.Ser424=)
c.867C>G (p.Ser289=)
c.225C>G (p.Ser75=)
n.1650C>G
 gnomAD v4
10g.71645902C>TCA5543732CDH23c.1212C>T (p.Ser404=)
c.643C>T
n.1048C>T
c.876C>T (p.Ser292=)
c.1227C>T (p.Ser409=)
c.957C>T (p.Ser319=)
c.181C>T
c.1407C>T (p.Ser469=)
c.1341C>T (p.Ser447=)
c.1401C>T (p.Ser467=)
c.1347C>T (p.Ser449=)
c.1272C>T (p.Ser424=)
c.867C>T (p.Ser289=)
c.225C>T (p.Ser75=)
n.1650C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
10g.71645903G>ACA5543733CDH23c.1213G>A (p.Val405Ile)
c.644G>A
n.1049G>A
c.877G>A (p.Val293Ile)
c.1228G>A (p.Val410Ile)
c.958G>A (p.Val320Ile)
c.182G>A
c.1408G>A (p.Val470Ile)
c.1342G>A (p.Val448Ile)
c.1402G>A (p.Val468Ile)
c.1348G>A (p.Val450Ile)
c.1273G>A (p.Val425Ile)
c.868G>A (p.Val290Ile)
c.226G>A (p.Val76Ile)
n.1651G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
10g.71645903G>CCA377127693CDH23c.1213G>C (p.Val405Leu)
c.644G>C
n.1049G>C
c.877G>C (p.Val293Leu)
c.1228G>C (p.Val410Leu)
c.958G>C (p.Val320Leu)
c.182G>C
c.1408G>C (p.Val470Leu)
c.1342G>C (p.Val448Leu)
c.1402G>C (p.Val468Leu)
c.1348G>C (p.Val450Leu)
c.1273G>C (p.Val425Leu)
c.868G>C (p.Val290Leu)
c.226G>C (p.Val76Leu)
n.1651G>C
10g.71645903G=CA1918809268CDH23c.1213G= (p.Val405=)
c.644G=
n.1049G=
c.877G= (p.Val293=)
c.1228G= (p.Val410=)
c.958G= (p.Val320=)
c.182G=
c.1408G= (p.Val470=)
c.1342G= (p.Val448=)
c.1402G= (p.Val468=)
c.1348G= (p.Val450=)
c.1273G= (p.Val425=)
c.868G= (p.Val290=)
c.226G= (p.Val76=)
n.1651G=
10g.71645903G>TCA377127695CDH23c.1213G>T (p.Val405Phe)
c.644G>T
n.1049G>T
c.877G>T (p.Val293Phe)
c.1228G>T (p.Val410Phe)
c.958G>T (p.Val320Phe)
c.182G>T
c.1408G>T (p.Val470Phe)
c.1342G>T (p.Val448Phe)
c.1402G>T (p.Val468Phe)
c.1348G>T (p.Val450Phe)
c.1273G>T (p.Val425Phe)
c.868G>T (p.Val290Phe)
c.226G>T (p.Val76Phe)
n.1651G>T
10g.71645904T>ACA377127697CDH23c.1214T>A (p.Val405Asp)
c.645T>A
n.1050T>A
c.878T>A (p.Val293Asp)
c.1229T>A (p.Val410Asp)
c.959T>A (p.Val320Asp)
c.183T>A
c.1409T>A (p.Val470Asp)
c.1343T>A (p.Val448Asp)
c.1403T>A (p.Val468Asp)
c.1349T>A (p.Val450Asp)
c.1274T>A (p.Val425Asp)
c.869T>A (p.Val290Asp)
c.227T>A (p.Val76Asp)
n.1652T>A
 gnomAD v4
10g.71645904T>CCA377127699CDH23c.1214T>C (p.Val405Ala)
c.645T>C
n.1050T>C
c.878T>C (p.Val293Ala)
c.1229T>C (p.Val410Ala)
c.959T>C (p.Val320Ala)
c.183T>C
c.1409T>C (p.Val470Ala)
c.1343T>C (p.Val448Ala)
c.1403T>C (p.Val468Ala)
c.1349T>C (p.Val450Ala)
c.1274T>C (p.Val425Ala)
c.869T>C (p.Val290Ala)
c.227T>C (p.Val76Ala)
n.1652T>C
10g.71645904T>GCA377127701CDH23c.1214T>G (p.Val405Gly)
c.645T>G
n.1050T>G
c.878T>G (p.Val293Gly)
c.1229T>G (p.Val410Gly)
c.959T>G (p.Val320Gly)
c.183T>G
c.1409T>G (p.Val470Gly)
c.1343T>G (p.Val448Gly)
c.1403T>G (p.Val468Gly)
c.1349T>G (p.Val450Gly)
c.1274T>G (p.Val425Gly)
c.869T>G (p.Val290Gly)
c.227T>G (p.Val76Gly)
n.1652T>G
10g.71645905C>ACA470057985CDH23c.1215C>A (p.Val405=)
c.646C>A
n.1051C>A
c.879C>A (p.Val293=)
c.1230C>A (p.Val410=)
c.960C>A (p.Val320=)
c.184C>A
c.1410C>A (p.Val470=)
c.1344C>A (p.Val448=)
c.1404C>A (p.Val468=)
c.1350C>A (p.Val450=)
c.1275C>A (p.Val425=)
c.870C>A (p.Val290=)
c.228C>A (p.Val76=)
n.1653C>A
 ClinVar dbSNP
10g.71645905C>GCA470057984CDH23c.1215C>G (p.Val405=)
c.646C>G
n.1051C>G
c.879C>G (p.Val293=)
c.1230C>G (p.Val410=)
c.960C>G (p.Val320=)
c.184C>G
c.1410C>G (p.Val470=)
c.1344C>G (p.Val448=)
c.1404C>G (p.Val468=)
c.1350C>G (p.Val450=)
c.1275C>G (p.Val425=)
c.870C>G (p.Val290=)
c.228C>G (p.Val76=)
n.1653C>G
10g.71645905C>TCA470057983CDH23c.1215C>T (p.Val405=)
c.646C>T
n.1051C>T
c.879C>T (p.Val293=)
c.1230C>T (p.Val410=)
c.960C>T (p.Val320=)
c.184C>T
c.1410C>T (p.Val470=)
c.1344C>T (p.Val448=)
c.1404C>T (p.Val468=)
c.1350C>T (p.Val450=)
c.1275C>T (p.Val425=)
c.870C>T (p.Val290=)
c.228C>T (p.Val76=)
n.1653C>T
10g.71645906C>ACA377127703CDH23c.1216C>A (p.Gln406Lys)
c.647C>A
n.1052C>A
c.880C>A (p.Gln294Lys)
c.1231C>A (p.Gln411Lys)
c.961C>A (p.Gln321Lys)
c.185C>A
c.1411C>A (p.Gln471Lys)
c.1345C>A (p.Gln449Lys)
c.1405C>A (p.Gln469Lys)
c.1351C>A (p.Gln451Lys)
c.1276C>A (p.Gln426Lys)
c.871C>A (p.Gln291Lys)
c.229C>A (p.Gln77Lys)
n.1654C>A
10g.71645906C>GCA377127705CDH23c.1216C>G (p.Gln406Glu)
c.647C>G
n.1052C>G
c.880C>G (p.Gln294Glu)
c.1231C>G (p.Gln411Glu)
c.961C>G (p.Gln321Glu)
c.185C>G
c.1411C>G (p.Gln471Glu)
c.1345C>G (p.Gln449Glu)
c.1405C>G (p.Gln469Glu)
c.1351C>G (p.Gln451Glu)
c.1276C>G (p.Gln426Glu)
c.871C>G (p.Gln291Glu)
c.229C>G (p.Gln77Glu)
n.1654C>G
 gnomAD v4
10g.71645906C>TCA377127707CDH23c.1216C>T (p.Gln406Ter)
c.647C>T
n.1052C>T
c.880C>T (p.Gln294Ter)
c.1231C>T (p.Gln411Ter)
c.961C>T (p.Gln321Ter)
c.185C>T
c.1411C>T (p.Gln471Ter)
c.1345C>T (p.Gln449Ter)
c.1405C>T (p.Gln469Ter)
c.1351C>T (p.Gln451Ter)
c.1276C>T (p.Gln426Ter)
c.871C>T (p.Gln291Ter)
c.229C>T (p.Gln77Ter)
n.1654C>T
10g.71645907A>CCA377127713CDH23c.1217A>C (p.Gln406Pro)
c.648A>C
n.1053A>C
c.881A>C (p.Gln294Pro)
c.1232A>C (p.Gln411Pro)
c.962A>C (p.Gln321Pro)
c.186A>C
c.1412A>C (p.Gln471Pro)
c.1346A>C (p.Gln449Pro)
c.1406A>C (p.Gln469Pro)
c.1352A>C (p.Gln451Pro)
c.1277A>C (p.Gln426Pro)
c.872A>C (p.Gln291Pro)
c.230A>C (p.Gln77Pro)
n.1655A>C
10g.71645907A>GCA377127709CDH23c.1217A>G (p.Gln406Arg)
c.648A>G
n.1053A>G
c.881A>G (p.Gln294Arg)
c.1232A>G (p.Gln411Arg)
c.962A>G (p.Gln321Arg)
c.186A>G
c.1412A>G (p.Gln471Arg)
c.1346A>G (p.Gln449Arg)
c.1406A>G (p.Gln469Arg)
c.1352A>G (p.Gln451Arg)
c.1277A>G (p.Gln426Arg)
c.872A>G (p.Gln291Arg)
c.230A>G (p.Gln77Arg)
n.1655A>G
10g.71645907A>TCA377127711CDH23c.1217A>T (p.Gln406Leu)
c.648A>T
n.1053A>T
c.881A>T (p.Gln294Leu)
c.1232A>T (p.Gln411Leu)
c.962A>T (p.Gln321Leu)
c.186A>T
c.1412A>T (p.Gln471Leu)
c.1346A>T (p.Gln449Leu)
c.1406A>T (p.Gln469Leu)
c.1352A>T (p.Gln451Leu)
c.1277A>T (p.Gln426Leu)
c.872A>T (p.Gln291Leu)
c.230A>T (p.Gln77Leu)
n.1655A>T
10g.71645908G>ACA5543734CDH23c.1218G>A (p.Gln406=)
c.649G>A
n.1054G>A
c.882G>A (p.Gln294=)
c.1233G>A (p.Gln411=)
c.963G>A (p.Gln321=)
c.187G>A
c.1413G>A (p.Gln471=)
c.1347G>A (p.Gln449=)
c.1407G>A (p.Gln469=)
c.1353G>A (p.Gln451=)
c.1278G>A (p.Gln426=)
c.873G>A (p.Gln291=)
c.231G>A (p.Gln77=)
n.1656G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71645908G>CCA377127716CDH23c.1218G>C (p.Gln406His)
c.649G>C
n.1054G>C
c.882G>C (p.Gln294His)
c.1233G>C (p.Gln411His)
c.963G>C (p.Gln321His)
c.187G>C
c.1413G>C (p.Gln471His)
c.1347G>C (p.Gln449His)
c.1407G>C (p.Gln469His)
c.1353G>C (p.Gln451His)
c.1278G>C (p.Gln426His)
c.873G>C (p.Gln291His)
c.231G>C (p.Gln77His)
n.1656G>C
 gnomAD v4
10g.71645908G=CA1918809269CDH23c.1218G= (p.Gln406=)
c.649G=
n.1054G=
c.882G= (p.Gln294=)
c.1233G= (p.Gln411=)
c.963G= (p.Gln321=)
c.187G=
c.1413G= (p.Gln471=)
c.1347G= (p.Gln449=)
c.1407G= (p.Gln469=)
c.1353G= (p.Gln451=)
c.1278G= (p.Gln426=)
c.873G= (p.Gln291=)
c.231G= (p.Gln77=)
n.1656G=
10g.71645908G>TCA377127718CDH23c.1218G>T (p.Gln406His)
c.649G>T
n.1054G>T
c.882G>T (p.Gln294His)
c.1233G>T (p.Gln411His)
c.963G>T (p.Gln321His)
c.187G>T
c.1413G>T (p.Gln471His)
c.1347G>T (p.Gln449His)
c.1407G>T (p.Gln469His)
c.1353G>T (p.Gln451His)
c.1278G>T (p.Gln426His)
c.873G>T (p.Gln291His)
c.231G>T (p.Gln77His)
n.1656G>T
10g.71645909G>ACA377127720CDH23c.1219G>A (p.Gly407Arg)
c.650G>A
n.1055G>A
c.883G>A (p.Gly295Arg)
c.1234G>A (p.Gly412Arg)
c.964G>A (p.Gly322Arg)
c.188G>A
c.1414G>A (p.Gly472Arg)
c.1348G>A (p.Gly450Arg)
c.1408G>A (p.Gly470Arg)
c.1354G>A (p.Gly452Arg)
c.1279G>A (p.Gly427Arg)
c.874G>A (p.Gly292Arg)
c.232G>A (p.Gly78Arg)
n.1657G>A
10g.71645909G>CCA377127722CDH23c.1219G>C (p.Gly407Arg)
c.650G>C
n.1055G>C
c.883G>C (p.Gly295Arg)
c.1234G>C (p.Gly412Arg)
c.964G>C (p.Gly322Arg)
c.188G>C
c.1414G>C (p.Gly472Arg)
c.1348G>C (p.Gly450Arg)
c.1408G>C (p.Gly470Arg)
c.1354G>C (p.Gly452Arg)
c.1279G>C (p.Gly427Arg)
c.874G>C (p.Gly292Arg)
c.232G>C (p.Gly78Arg)
n.1657G>C
10g.71645909G>TCA377127723CDH23c.1219G>T (p.Gly407Trp)
c.650G>T
n.1055G>T
c.883G>T (p.Gly295Trp)
c.1234G>T (p.Gly412Trp)
c.964G>T (p.Gly322Trp)
c.188G>T
c.1414G>T (p.Gly472Trp)
c.1348G>T (p.Gly450Trp)
c.1408G>T (p.Gly470Trp)
c.1354G>T (p.Gly452Trp)
c.1279G>T (p.Gly427Trp)
c.874G>T (p.Gly292Trp)
c.232G>T (p.Gly78Trp)
n.1657G>T
 gnomAD v4
10g.71645910G>ACA377127725CDH23c.1220G>A (p.Gly407Glu)
c.651G>A
n.1056G>A
c.884G>A (p.Gly295Glu)
c.1235G>A (p.Gly412Glu)
c.965G>A (p.Gly322Glu)
c.189G>A
c.1415G>A (p.Gly472Glu)
c.1349G>A (p.Gly450Glu)
c.1409G>A (p.Gly470Glu)
c.1355G>A (p.Gly452Glu)
c.1280G>A (p.Gly427Glu)
c.875G>A (p.Gly292Glu)
c.233G>A (p.Gly78Glu)
n.1658G>A
 dbSNP gnomAD v4
10g.71645910G>CCA377127727CDH23c.1220G>C (p.Gly407Ala)
c.651G>C
n.1056G>C
c.884G>C (p.Gly295Ala)
c.1235G>C (p.Gly412Ala)
c.965G>C (p.Gly322Ala)
c.189G>C
c.1415G>C (p.Gly472Ala)
c.1349G>C (p.Gly450Ala)
c.1409G>C (p.Gly470Ala)
c.1355G>C (p.Gly452Ala)
c.1280G>C (p.Gly427Ala)
c.875G>C (p.Gly292Ala)
c.233G>C (p.Gly78Ala)
n.1658G>C
10g.71645910G>TCA377127728CDH23c.1220G>T (p.Gly407Val)
c.651G>T
n.1056G>T
c.884G>T (p.Gly295Val)
c.1235G>T (p.Gly412Val)
c.965G>T (p.Gly322Val)
c.189G>T
c.1415G>T (p.Gly472Val)
c.1349G>T (p.Gly450Val)
c.1409G>T (p.Gly470Val)
c.1355G>T (p.Gly452Val)
c.1280G>T (p.Gly427Val)
c.875G>T (p.Gly292Val)
c.233G>T (p.Gly78Val)
n.1658G>T
10g.71645911G>ACA209442293CDH23c.1221G>A (p.Gly407=)
c.652G>A
n.1057G>A
c.885G>A (p.Gly295=)
c.1236G>A (p.Gly412=)
c.966G>A (p.Gly322=)
c.190G>A
c.1416G>A (p.Gly472=)
c.1350G>A (p.Gly450=)
c.1410G>A (p.Gly470=)
c.1356G>A (p.Gly452=)
c.1281G>A (p.Gly427=)
c.876G>A (p.Gly292=)
c.234G>A (p.Gly78=)
n.1659G>A
 ClinVar dbSNP
10g.71645911G>CCA470057986CDH23c.1221G>C (p.Gly407=)
c.652G>C
n.1057G>C
c.885G>C (p.Gly295=)
c.1236G>C (p.Gly412=)
c.966G>C (p.Gly322=)
c.190G>C
c.1416G>C (p.Gly472=)
c.1350G>C (p.Gly450=)
c.1410G>C (p.Gly470=)
c.1356G>C (p.Gly452=)
c.1281G>C (p.Gly427=)
c.876G>C (p.Gly292=)
c.234G>C (p.Gly78=)
n.1659G>C
10g.71645911G=CA1918809270CDH23c.1221G= (p.Gly407=)
c.652G=
n.1057G=
c.885G= (p.Gly295=)
c.1236G= (p.Gly412=)
c.966G= (p.Gly322=)
c.190G=
c.1416G= (p.Gly472=)
c.1350G= (p.Gly450=)
c.1410G= (p.Gly470=)
c.1356G= (p.Gly452=)
c.1281G= (p.Gly427=)
c.876G= (p.Gly292=)
c.234G= (p.Gly78=)
n.1659G=
10g.71645911G>TCA470057987CDH23c.1221G>T (p.Gly407=)
c.652G>T
n.1057G>T
c.885G>T (p.Gly295=)
c.1236G>T (p.Gly412=)
c.966G>T (p.Gly322=)
c.190G>T
c.1416G>T (p.Gly472=)
c.1350G>T (p.Gly450=)
c.1410G>T (p.Gly470=)
c.1356G>T (p.Gly452=)
c.1281G>T (p.Gly427=)
c.876G>T (p.Gly292=)
c.234G>T (p.Gly78=)
n.1659G>T
 gnomAD v4
10g.71645912A>CCA377127731CDH23c.1222A>C (p.Lys408Gln)
c.653A>C
n.1058A>C
c.886A>C (p.Lys296Gln)
c.1237A>C (p.Lys413Gln)
c.967A>C (p.Lys323Gln)
c.191A>C
c.1417A>C (p.Lys473Gln)
c.1351A>C (p.Lys451Gln)
c.1411A>C (p.Lys471Gln)
c.1357A>C (p.Lys453Gln)
c.1282A>C (p.Lys428Gln)
c.877A>C (p.Lys293Gln)
c.235A>C (p.Lys79Gln)
n.1660A>C
10g.71645912A>GCA377127733CDH23c.1222A>G (p.Lys408Glu)
c.653A>G
n.1058A>G
c.886A>G (p.Lys296Glu)
c.1237A>G (p.Lys413Glu)
c.967A>G (p.Lys323Glu)
c.191A>G
c.1417A>G (p.Lys473Glu)
c.1351A>G (p.Lys451Glu)
c.1411A>G (p.Lys471Glu)
c.1357A>G (p.Lys453Glu)
c.1282A>G (p.Lys428Glu)
c.877A>G (p.Lys293Glu)
c.235A>G (p.Lys79Glu)
n.1660A>G
10g.71645912A>TCA377127734CDH23c.1222A>T (p.Lys408Ter)
c.653A>T
n.1058A>T
c.886A>T (p.Lys296Ter)
c.1237A>T (p.Lys413Ter)
c.967A>T (p.Lys323Ter)
c.191A>T
c.1417A>T (p.Lys473Ter)
c.1351A>T (p.Lys451Ter)
c.1411A>T (p.Lys471Ter)
c.1357A>T (p.Lys453Ter)
c.1282A>T (p.Lys428Ter)
c.877A>T (p.Lys293Ter)
c.235A>T (p.Lys79Ter)
n.1660A>T
10g.71645913A>CCA377127737CDH23c.1223A>C (p.Lys408Thr)
c.654A>C
n.1059A>C
c.887A>C (p.Lys296Thr)
c.1238A>C (p.Lys413Thr)
c.968A>C (p.Lys323Thr)
c.192A>C
c.1418A>C (p.Lys473Thr)
c.1352A>C (p.Lys451Thr)
c.1412A>C (p.Lys471Thr)
c.1358A>C (p.Lys453Thr)
c.1283A>C (p.Lys428Thr)
c.878A>C (p.Lys293Thr)
c.236A>C (p.Lys79Thr)
n.1661A>C
10g.71645913A>GCA377127740CDH23c.1223A>G (p.Lys408Arg)
c.654A>G
n.1059A>G
c.887A>G (p.Lys296Arg)
c.1238A>G (p.Lys413Arg)
c.968A>G (p.Lys323Arg)
c.192A>G
c.1418A>G (p.Lys473Arg)
c.1352A>G (p.Lys451Arg)
c.1412A>G (p.Lys471Arg)
c.1358A>G (p.Lys453Arg)
c.1283A>G (p.Lys428Arg)
c.878A>G (p.Lys293Arg)
c.236A>G (p.Lys79Arg)
n.1661A>G
 gnomAD v4
10g.71645913A>TCA377127739CDH23c.1223A>T (p.Lys408Met)
c.654A>T
n.1059A>T
c.887A>T (p.Lys296Met)
c.1238A>T (p.Lys413Met)
c.968A>T (p.Lys323Met)
c.192A>T
c.1418A>T (p.Lys473Met)
c.1352A>T (p.Lys451Met)
c.1412A>T (p.Lys471Met)
c.1358A>T (p.Lys453Met)
c.1283A>T (p.Lys428Met)
c.878A>T (p.Lys293Met)
c.236A>T (p.Lys79Met)
n.1661A>T
10g.71645914G>ACA5543735CDH23c.1224G>A (p.Lys408=)
c.655G>A
n.1060G>A
c.888G>A (p.Lys296=)
c.1239G>A (p.Lys413=)
c.969G>A (p.Lys323=)
c.193G>A
c.1419G>A (p.Lys473=)
c.1353G>A (p.Lys451=)
c.1413G>A (p.Lys471=)
c.1359G>A (p.Lys453=)
c.1284G>A (p.Lys428=)
c.879G>A (p.Lys293=)
c.237G>A (p.Lys79=)
n.1662G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71645914G>CCA377127745CDH23c.1224G>C (p.Lys408Asn)
c.655G>C
n.1060G>C
c.888G>C (p.Lys296Asn)
c.1239G>C (p.Lys413Asn)
c.969G>C (p.Lys323Asn)
c.193G>C
c.1419G>C (p.Lys473Asn)
c.1353G>C (p.Lys451Asn)
c.1413G>C (p.Lys471Asn)
c.1359G>C (p.Lys453Asn)
c.1284G>C (p.Lys428Asn)
c.879G>C (p.Lys293Asn)
c.237G>C (p.Lys79Asn)
n.1662G>C
10g.71645914G=CA1918809271CDH23c.1224G= (p.Lys408=)
c.655G=
n.1060G=
c.888G= (p.Lys296=)
c.1239G= (p.Lys413=)
c.969G= (p.Lys323=)
c.193G=
c.1419G= (p.Lys473=)
c.1353G= (p.Lys451=)
c.1413G= (p.Lys471=)
c.1359G= (p.Lys453=)
c.1284G= (p.Lys428=)
c.879G= (p.Lys293=)
c.237G= (p.Lys79=)
n.1662G=
10g.71645914G>TCA377127744CDH23c.1224G>T (p.Lys408Asn)
c.655G>T
n.1060G>T
c.888G>T (p.Lys296Asn)
c.1239G>T (p.Lys413Asn)
c.969G>T (p.Lys323Asn)
c.193G>T
c.1419G>T (p.Lys473Asn)
c.1353G>T (p.Lys451Asn)
c.1413G>T (p.Lys471Asn)
c.1359G>T (p.Lys453Asn)
c.1284G>T (p.Lys428Asn)
c.879G>T (p.Lys293Asn)
c.237G>T (p.Lys79Asn)
n.1662G>T
10g.71645915G>ACA5543736CDH23c.1225G>A (p.Ala409Thr)
c.656G>A
n.1061G>A
c.889G>A (p.Ala297Thr)
c.1240G>A (p.Ala414Thr)
c.970G>A (p.Ala324Thr)
c.194G>A
c.1420G>A (p.Ala474Thr)
c.1354G>A (p.Ala452Thr)
c.1414G>A (p.Ala472Thr)
c.1360G>A (p.Ala454Thr)
c.1285G>A (p.Ala429Thr)
c.880G>A (p.Ala294Thr)
c.238G>A (p.Ala80Thr)
n.1663G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71645915G>CCA377127749CDH23c.1225G>C (p.Ala409Pro)
c.656G>C
n.1061G>C
c.889G>C (p.Ala297Pro)
c.1240G>C (p.Ala414Pro)
c.970G>C (p.Ala324Pro)
c.194G>C
c.1420G>C (p.Ala474Pro)
c.1354G>C (p.Ala452Pro)
c.1414G>C (p.Ala472Pro)
c.1360G>C (p.Ala454Pro)
c.1285G>C (p.Ala429Pro)
c.880G>C (p.Ala294Pro)
c.238G>C (p.Ala80Pro)
n.1663G>C
10g.71645915G=CA1918809272CDH23c.1225G= (p.Ala409=)
c.656G=
n.1061G=
c.889G= (p.Ala297=)
c.1240G= (p.Ala414=)
c.970G= (p.Ala324=)
c.194G=
c.1420G= (p.Ala474=)
c.1354G= (p.Ala452=)
c.1414G= (p.Ala472=)
c.1360G= (p.Ala454=)
c.1285G= (p.Ala429=)
c.880G= (p.Ala294=)
c.238G= (p.Ala80=)
n.1663G=
10g.71645915G>TCA377127750CDH23c.1225G>T (p.Ala409Ser)
c.656G>T
n.1061G>T
c.889G>T (p.Ala297Ser)
c.1240G>T (p.Ala414Ser)
c.970G>T (p.Ala324Ser)
c.194G>T
c.1420G>T (p.Ala474Ser)
c.1354G>T (p.Ala452Ser)
c.1414G>T (p.Ala472Ser)
c.1360G>T (p.Ala454Ser)
c.1285G>T (p.Ala429Ser)
c.880G>T (p.Ala294Ser)
c.238G>T (p.Ala80Ser)
n.1663G>T
10g.71645916C>ACA377127751CDH23c.1226C>A (p.Ala409Glu)
c.657C>A
n.1062C>A
c.890C>A (p.Ala297Glu)
c.1241C>A (p.Ala414Glu)
c.971C>A (p.Ala324Glu)
c.1C>A
c.195C>A
c.1421C>A (p.Ala474Glu)
c.1355C>A (p.Ala452Glu)
c.1415C>A (p.Ala472Glu)
c.1361C>A (p.Ala454Glu)
c.1286C>A (p.Ala429Glu)
c.881C>A (p.Ala294Glu)
c.239C>A (p.Ala80Glu)
n.1664C>A
10g.71645916C=CA1918809273CDH23c.1226C= (p.Ala409=)
c.657C=
n.1062C=
c.890C= (p.Ala297=)
c.1241C= (p.Ala414=)
c.971C= (p.Ala324=)
c.1C=
c.195C=
c.1421C= (p.Ala474=)
c.1355C= (p.Ala452=)
c.1415C= (p.Ala472=)
c.1361C= (p.Ala454=)
c.1286C= (p.Ala429=)
c.881C= (p.Ala294=)
c.239C= (p.Ala80=)
n.1664C=
10g.71645916C>GCA377127752CDH23c.1226C>G (p.Ala409Gly)
c.657C>G
n.1062C>G
c.890C>G (p.Ala297Gly)
c.1241C>G (p.Ala414Gly)
c.971C>G (p.Ala324Gly)
c.1C>G
c.195C>G
c.1421C>G (p.Ala474Gly)
c.1355C>G (p.Ala452Gly)
c.1415C>G (p.Ala472Gly)
c.1361C>G (p.Ala454Gly)
c.1286C>G (p.Ala429Gly)
c.881C>G (p.Ala294Gly)
c.239C>G (p.Ala80Gly)
n.1664C>G
10g.71645916C>TCA5543737CDH23c.1226C>T (p.Ala409Val)
c.657C>T
n.1062C>T
c.890C>T (p.Ala297Val)
c.1241C>T (p.Ala414Val)
c.971C>T (p.Ala324Val)
c.1C>T
c.195C>T
c.1421C>T (p.Ala474Val)
c.1355C>T (p.Ala452Val)
c.1415C>T (p.Ala472Val)
c.1361C>T (p.Ala454Val)
c.1286C>T (p.Ala429Val)
c.881C>T (p.Ala294Val)
c.239C>T (p.Ala80Val)
n.1664C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71645917G>ACA182063CDH23c.1227G>A (p.Ala409=)
c.658G>A
n.1063G>A
c.891G>A (p.Ala297=)
c.1242G>A (p.Ala414=)
c.972G>A (p.Ala324=)
c.2G>A
c.196G>A
c.1422G>A (p.Ala474=)
c.1356G>A (p.Ala452=)
c.1416G>A (p.Ala472=)
c.1362G>A (p.Ala454=)
c.1287G>A (p.Ala429=)
c.882G>A (p.Ala294=)
c.240G>A (p.Ala80=)
n.1665G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71645917G>CCA470057988CDH23c.1227G>C (p.Ala409=)
c.658G>C
n.1063G>C
c.891G>C (p.Ala297=)
c.1242G>C (p.Ala414=)
c.972G>C (p.Ala324=)
c.2G>C
c.196G>C
c.1422G>C (p.Ala474=)
c.1356G>C (p.Ala452=)
c.1416G>C (p.Ala472=)
c.1362G>C (p.Ala454=)
c.1287G>C (p.Ala429=)
c.882G>C (p.Ala294=)
c.240G>C (p.Ala80=)
n.1665G>C
10g.71645917G=CA1918809274CDH23c.1227G= (p.Ala409=)
c.658G=
n.1063G=
c.891G= (p.Ala297=)
c.1242G= (p.Ala414=)
c.972G= (p.Ala324=)
c.2G=
c.196G=
c.1422G= (p.Ala474=)
c.1356G= (p.Ala452=)
c.1416G= (p.Ala472=)
c.1362G= (p.Ala454=)
c.1287G= (p.Ala429=)
c.882G= (p.Ala294=)
c.240G= (p.Ala80=)
n.1665G=
10g.71645917G>TCA470057989CDH23c.1227G>T (p.Ala409=)
c.658G>T
n.1063G>T
c.891G>T (p.Ala297=)
c.1242G>T (p.Ala414=)
c.972G>T (p.Ala324=)
c.2G>T
c.196G>T
c.1422G>T (p.Ala474=)
c.1356G>T (p.Ala452=)
c.1416G>T (p.Ala472=)
c.1362G>T (p.Ala454=)
c.1287G>T (p.Ala429=)
c.882G>T (p.Ala294=)
c.240G>T (p.Ala80=)
n.1665G>T
10g.71645918G>ACA377127753CDH23c.1228G>A (p.Asp410Asn)
c.659G>A
n.1064G>A
c.892G>A (p.Asp298Asn)
c.1243G>A (p.Asp415Asn)
c.973G>A (p.Asp325Asn)
c.3G>A
c.197G>A
c.1423G>A (p.Asp475Asn)
c.1357G>A (p.Asp453Asn)
c.1417G>A (p.Asp473Asn)
c.1363G>A (p.Asp455Asn)
c.1288G>A (p.Asp430Asn)
c.883G>A (p.Asp295Asn)
c.241G>A (p.Asp81Asn)
n.1666G>A
 dbSNP gnomAD v2 gnomAD v4
10g.71645918G>CCA377127754CDH23c.1228G>C (p.Asp410His)
c.659G>C
n.1064G>C
c.892G>C (p.Asp298His)
c.1243G>C (p.Asp415His)
c.973G>C (p.Asp325His)
c.3G>C
c.197G>C
c.1423G>C (p.Asp475His)
c.1357G>C (p.Asp453His)
c.1417G>C (p.Asp473His)
c.1363G>C (p.Asp455His)
c.1288G>C (p.Asp430His)
c.883G>C (p.Asp295His)
c.241G>C (p.Asp81His)
n.1666G>C
 gnomAD v4
10g.71645918G=CA1918809275CDH23c.1228G= (p.Asp410=)
c.659G=
n.1064G=
c.892G= (p.Asp298=)
c.1243G= (p.Asp415=)
c.973G= (p.Asp325=)
c.3G=
c.197G=
c.1423G= (p.Asp475=)
c.1357G= (p.Asp453=)
c.1417G= (p.Asp473=)
c.1363G= (p.Asp455=)
c.1288G= (p.Asp430=)
c.883G= (p.Asp295=)
c.241G= (p.Asp81=)
n.1666G=
10g.71645918G>TCA377127755CDH23c.1228G>T (p.Asp410Tyr)
c.659G>T
n.1064G>T
c.892G>T (p.Asp298Tyr)
c.1243G>T (p.Asp415Tyr)
c.973G>T (p.Asp325Tyr)
c.3G>T
c.197G>T
c.1423G>T (p.Asp475Tyr)
c.1357G>T (p.Asp453Tyr)
c.1417G>T (p.Asp473Tyr)
c.1363G>T (p.Asp455Tyr)
c.1288G>T (p.Asp430Tyr)
c.883G>T (p.Asp295Tyr)
c.241G>T (p.Asp81Tyr)
n.1666G>T
10g.71645919A>CCA377127756CDH23c.1229A>C (p.Asp410Ala)
c.660A>C
n.1065A>C
c.893A>C (p.Asp298Ala)
c.1244A>C (p.Asp415Ala)
c.974A>C (p.Asp325Ala)
c.4A>C
c.198A>C
c.1424A>C (p.Asp475Ala)
c.1358A>C (p.Asp453Ala)
c.1418A>C (p.Asp473Ala)
c.1364A>C (p.Asp455Ala)
c.1289A>C (p.Asp430Ala)
c.884A>C (p.Asp295Ala)
c.242A>C (p.Asp81Ala)
n.1667A>C
10g.71645919A>GCA377127757CDH23c.1229A>G (p.Asp410Gly)
c.660A>G
n.1065A>G
c.893A>G (p.Asp298Gly)
c.1244A>G (p.Asp415Gly)
c.974A>G (p.Asp325Gly)
c.4A>G
c.198A>G
c.1424A>G (p.Asp475Gly)
c.1358A>G (p.Asp453Gly)
c.1418A>G (p.Asp473Gly)
c.1364A>G (p.Asp455Gly)
c.1289A>G (p.Asp430Gly)
c.884A>G (p.Asp295Gly)
c.242A>G (p.Asp81Gly)
n.1667A>G
10g.71645919A>TCA377127758CDH23c.1229A>T (p.Asp410Val)
c.660A>T
n.1065A>T
c.893A>T (p.Asp298Val)
c.1244A>T (p.Asp415Val)
c.974A>T (p.Asp325Val)
c.4A>T
c.198A>T
c.1424A>T (p.Asp475Val)
c.1358A>T (p.Asp453Val)
c.1418A>T (p.Asp473Val)
c.1364A>T (p.Asp455Val)
c.1289A>T (p.Asp430Val)
c.884A>T (p.Asp295Val)
c.242A>T (p.Asp81Val)
n.1667A>T
 gnomAD v4
10g.71645920C>ACA377127759CDH23c.1230C>A (p.Asp410Glu)
c.661C>A
n.1066C>A
c.894C>A (p.Asp298Glu)
c.1245C>A (p.Asp415Glu)
c.975C>A (p.Asp325Glu)
c.5C>A
c.199C>A
c.1425C>A (p.Asp475Glu)
c.1359C>A (p.Asp453Glu)
c.1419C>A (p.Asp473Glu)
c.1365C>A (p.Asp455Glu)
c.1290C>A (p.Asp430Glu)
c.885C>A (p.Asp295Glu)
c.243C>A (p.Asp81Glu)
n.1668C>A
10g.71645920C=CA1918809276CDH23c.1230C= (p.Asp410=)
c.661C=
n.1066C=
c.894C= (p.Asp298=)
c.1245C= (p.Asp415=)
c.975C= (p.Asp325=)
c.5C=
c.199C=
c.1425C= (p.Asp475=)
c.1359C= (p.Asp453=)
c.1419C= (p.Asp473=)
c.1365C= (p.Asp455=)
c.1290C= (p.Asp430=)
c.885C= (p.Asp295=)
c.243C= (p.Asp81=)
n.1668C=
10g.71645920C>GCA377127760CDH23c.1230C>G (p.Asp410Glu)
c.661C>G
n.1066C>G
c.894C>G (p.Asp298Glu)
c.1245C>G (p.Asp415Glu)
c.975C>G (p.Asp325Glu)
c.5C>G
c.199C>G
c.1425C>G (p.Asp475Glu)
c.1359C>G (p.Asp453Glu)
c.1419C>G (p.Asp473Glu)
c.1365C>G (p.Asp455Glu)
c.1290C>G (p.Asp430Glu)
c.885C>G (p.Asp295Glu)
c.243C>G (p.Asp81Glu)
n.1668C>G
10g.71645920C>TCA470057990CDH23c.1230C>T (p.Asp410=)
c.661C>T
n.1066C>T
c.894C>T (p.Asp298=)
c.1245C>T (p.Asp415=)
c.975C>T (p.Asp325=)
c.5C>T
c.199C>T
c.1425C>T (p.Asp475=)
c.1359C>T (p.Asp453=)
c.1419C>T (p.Asp473=)
c.1365C>T (p.Asp455=)
c.1290C>T (p.Asp430=)
c.885C>T (p.Asp295=)
c.243C>T (p.Asp81=)
n.1668C>T
 dbSNP gnomAD v4
10g.71645921A=CA1918809277CDH23c.1231A= (p.Ile411=)
c.662A=
n.1067A=
c.895A= (p.Ile299=)
c.1246A= (p.Ile416=)
c.976A= (p.Ile326=)
c.6A=
c.200A=
c.1426A= (p.Ile476=)
c.1360A= (p.Ile454=)
c.1420A= (p.Ile474=)
c.1366A= (p.Ile456=)
c.1291A= (p.Ile431=)
c.886A= (p.Ile296=)
c.244A= (p.Ile82=)
n.1669A=
10g.71645921A>CCA377127761CDH23c.1231A>C (p.Ile411Leu)
c.662A>C
n.1067A>C
c.895A>C (p.Ile299Leu)
c.1246A>C (p.Ile416Leu)
c.976A>C (p.Ile326Leu)
c.6A>C
c.200A>C
c.1426A>C (p.Ile476Leu)
c.1360A>C (p.Ile454Leu)
c.1420A>C (p.Ile474Leu)
c.1366A>C (p.Ile456Leu)
c.1291A>C (p.Ile431Leu)
c.886A>C (p.Ile296Leu)
c.244A>C (p.Ile82Leu)
n.1669A>C
10g.71645921A>GCA377127762CDH23c.1231A>G (p.Ile411Val)
c.662A>G
n.1067A>G
c.895A>G (p.Ile299Val)
c.1246A>G (p.Ile416Val)
c.976A>G (p.Ile326Val)
c.6A>G
c.200A>G
c.1426A>G (p.Ile476Val)
c.1360A>G (p.Ile454Val)
c.1420A>G (p.Ile474Val)
c.1366A>G (p.Ile456Val)
c.1291A>G (p.Ile431Val)
c.886A>G (p.Ile296Val)
c.244A>G (p.Ile82Val)
n.1669A>G
 ClinVar dbSNP
10g.71645921A>TCA377127763CDH23c.1231A>T (p.Ile411Phe)
c.662A>T
n.1067A>T
c.895A>T (p.Ile299Phe)
c.1246A>T (p.Ile416Phe)
c.976A>T (p.Ile326Phe)
c.6A>T
c.200A>T
c.1426A>T (p.Ile476Phe)
c.1360A>T (p.Ile454Phe)
c.1420A>T (p.Ile474Phe)
c.1366A>T (p.Ile456Phe)
c.1291A>T (p.Ile431Phe)
c.886A>T (p.Ile296Phe)
c.244A>T (p.Ile82Phe)
n.1669A>T
10g.71645926_71645931delCA2609565615CDH23c.1236_1241del (p.Ile413_Arg414del)
c.667_672del
n.1072_1077del
c.900_905del (p.Ile301_Arg302del)
c.1251_1256del (p.Ile418_Arg419del)
c.981_986del (p.Ile328_Arg329del)
c.11_16del
c.205_210del
c.1431_1436del (p.Ile478_Arg479del)
c.1365_1370del (p.Ile456_Arg457del)
c.1425_1430del (p.Ile476_Arg477del)
c.1371_1376del (p.Ile458_Arg459del)
c.1296_1301del (p.Ile433_Arg434del)
c.891_896del (p.Ile298_Arg299del)
c.249_254del (p.Ile84_Arg85del)
n.1674_1679del
 gnomAD v4
10g.71645922T>ACA377127764CDH23c.1232T>A (p.Ile411Asn)
c.663T>A
n.1068T>A
c.896T>A (p.Ile299Asn)
c.1247T>A (p.Ile416Asn)
c.977T>A (p.Ile326Asn)
c.7T>A
c.201T>A
c.1427T>A (p.Ile476Asn)
c.1361T>A (p.Ile454Asn)
c.1421T>A (p.Ile474Asn)
c.1367T>A (p.Ile456Asn)
c.1292T>A (p.Ile431Asn)
c.887T>A (p.Ile296Asn)
c.245T>A (p.Ile82Asn)
n.1670T>A
10g.71645922T>CCA377127765CDH23c.1232T>C (p.Ile411Thr)
c.663T>C
n.1068T>C
c.896T>C (p.Ile299Thr)
c.1247T>C (p.Ile416Thr)
c.977T>C (p.Ile326Thr)
c.7T>C
c.201T>C
c.1427T>C (p.Ile476Thr)
c.1361T>C (p.Ile454Thr)
c.1421T>C (p.Ile474Thr)
c.1367T>C (p.Ile456Thr)
c.1292T>C (p.Ile431Thr)
c.887T>C (p.Ile296Thr)
c.245T>C (p.Ile82Thr)
n.1670T>C
10g.71645922T>GCA377127766CDH23c.1232T>G (p.Ile411Ser)
c.663T>G
n.1068T>G
c.896T>G (p.Ile299Ser)
c.1247T>G (p.Ile416Ser)
c.977T>G (p.Ile326Ser)
c.7T>G
c.201T>G
c.1427T>G (p.Ile476Ser)
c.1361T>G (p.Ile454Ser)
c.1421T>G (p.Ile474Ser)
c.1367T>G (p.Ile456Ser)
c.1292T>G (p.Ile431Ser)
c.887T>G (p.Ile296Ser)
c.245T>G (p.Ile82Ser)
n.1670T>G
10g.71645923T>ACA470057992CDH23c.1233T>A (p.Ile411=)
c.664T>A
n.1069T>A
c.897T>A (p.Ile299=)
c.1248T>A (p.Ile416=)
c.978T>A (p.Ile326=)
c.8T>A
c.202T>A
c.1428T>A (p.Ile476=)
c.1362T>A (p.Ile454=)
c.1422T>A (p.Ile474=)
c.1368T>A (p.Ile456=)
c.1293T>A (p.Ile431=)
c.888T>A (p.Ile296=)
c.246T>A (p.Ile82=)
n.1671T>A
10g.71645923T>CCA470057991CDH23c.1233T>C (p.Ile411=)
c.664T>C
n.1069T>C
c.897T>C (p.Ile299=)
c.1248T>C (p.Ile416=)
c.978T>C (p.Ile326=)
c.8T>C
c.202T>C
c.1428T>C (p.Ile476=)
c.1362T>C (p.Ile454=)
c.1422T>C (p.Ile474=)
c.1368T>C (p.Ile456=)
c.1293T>C (p.Ile431=)
c.888T>C (p.Ile296=)
c.246T>C (p.Ile82=)
n.1671T>C
10g.71645923T>GCA377127767CDH23c.1233T>G (p.Ile411Met)
c.664T>G
n.1069T>G
c.897T>G (p.Ile299Met)
c.1248T>G (p.Ile416Met)
c.978T>G (p.Ile326Met)
c.8T>G
c.202T>G
c.1428T>G (p.Ile476Met)
c.1362T>G (p.Ile454Met)
c.1422T>G (p.Ile474Met)
c.1368T>G (p.Ile456Met)
c.1293T>G (p.Ile431Met)
c.888T>G (p.Ile296Met)
c.246T>G (p.Ile82Met)
n.1671T>G
10g.71645924C>ACA377127768CDH23c.1234C>A (p.Arg412Ser)
c.665C>A
n.1070C>A
c.898C>A (p.Arg300Ser)
c.1249C>A (p.Arg417Ser)
c.979C>A (p.Arg327Ser)
c.9C>A
c.203C>A
c.1429C>A (p.Arg477Ser)
c.1363C>A (p.Arg455Ser)
c.1423C>A (p.Arg475Ser)
c.1369C>A (p.Arg457Ser)
c.1294C>A (p.Arg432Ser)
c.889C>A (p.Arg297Ser)
c.247C>A (p.Arg83Ser)
n.1672C>A
10g.71645924C=CA1918809278CDH23c.1234C= (p.Arg412=)
c.665C=
n.1070C=
c.898C= (p.Arg300=)
c.1249C= (p.Arg417=)
c.979C= (p.Arg327=)
c.9C=
c.203C=
c.1429C= (p.Arg477=)
c.1363C= (p.Arg455=)
c.1423C= (p.Arg475=)
c.1369C= (p.Arg457=)
c.1294C= (p.Arg432=)
c.889C= (p.Arg297=)
c.247C= (p.Arg83=)
n.1672C=
10g.71645924C>GCA377127769CDH23c.1234C>G (p.Arg412Gly)
c.665C>G
n.1070C>G
c.898C>G (p.Arg300Gly)
c.1249C>G (p.Arg417Gly)
c.979C>G (p.Arg327Gly)
c.9C>G
c.203C>G
c.1429C>G (p.Arg477Gly)
c.1363C>G (p.Arg455Gly)
c.1423C>G (p.Arg475Gly)
c.1369C>G (p.Arg457Gly)
c.1294C>G (p.Arg432Gly)
c.889C>G (p.Arg297Gly)
c.247C>G (p.Arg83Gly)
n.1672C>G
 gnomAD v4
10g.71645924C>TCA5543738CDH23c.1234C>T (p.Arg412Cys)
c.665C>T
n.1070C>T
c.898C>T (p.Arg300Cys)
c.1249C>T (p.Arg417Cys)
c.979C>T (p.Arg327Cys)
c.9C>T
c.203C>T
c.1429C>T (p.Arg477Cys)
c.1363C>T (p.Arg455Cys)
c.1423C>T (p.Arg475Cys)
c.1369C>T (p.Arg457Cys)
c.1294C>T (p.Arg432Cys)
c.889C>T (p.Arg297Cys)
c.247C>T (p.Arg83Cys)
n.1672C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71645925G>ACA5543739CDH23c.1235G>A (p.Arg412His)
c.666G>A
n.1071G>A
c.899G>A (p.Arg300His)
c.1250G>A (p.Arg417His)
c.980G>A (p.Arg327His)
c.10G>A
c.204G>A
c.1430G>A (p.Arg477His)
c.1364G>A (p.Arg455His)
c.1424G>A (p.Arg475His)
c.1370G>A (p.Arg457His)
c.1295G>A (p.Arg432His)
c.890G>A (p.Arg297His)
c.248G>A (p.Arg83His)
n.1673G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
10g.71645925G>CCA377127771CDH23c.1235G>C (p.Arg412Pro)
c.666G>C
n.1071G>C
c.899G>C (p.Arg300Pro)
c.1250G>C (p.Arg417Pro)
c.980G>C (p.Arg327Pro)
c.10G>C
c.204G>C
c.1430G>C (p.Arg477Pro)
c.1364G>C (p.Arg455Pro)
c.1424G>C (p.Arg475Pro)
c.1370G>C (p.Arg457Pro)
c.1295G>C (p.Arg432Pro)
c.890G>C (p.Arg297Pro)
c.248G>C (p.Arg83Pro)
n.1673G>C
10g.71645925G=CA1918809279CDH23c.1235G= (p.Arg412=)
c.666G=
n.1071G=
c.899G= (p.Arg300=)
c.1250G= (p.Arg417=)
c.980G= (p.Arg327=)
c.10G=
c.204G=
c.1430G= (p.Arg477=)
c.1364G= (p.Arg455=)
c.1424G= (p.Arg475=)
c.1370G= (p.Arg457=)
c.1295G= (p.Arg432=)
c.890G= (p.Arg297=)
c.248G= (p.Arg83=)
n.1673G=
10g.71645925G>TCA377127770CDH23c.1235G>T (p.Arg412Leu)
c.666G>T
n.1071G>T
c.899G>T (p.Arg300Leu)
c.1250G>T (p.Arg417Leu)
c.980G>T (p.Arg327Leu)
c.10G>T
c.204G>T
c.1430G>T (p.Arg477Leu)
c.1364G>T (p.Arg455Leu)
c.1424G>T (p.Arg475Leu)
c.1370G>T (p.Arg457Leu)
c.1295G>T (p.Arg432Leu)
c.890G>T (p.Arg297Leu)
c.248G>T (p.Arg83Leu)
n.1673G>T
10g.71645926T>ACA470057995CDH23c.1236T>A (p.Arg412=)
c.667T>A
n.1072T>A
c.900T>A (p.Arg300=)
c.1251T>A (p.Arg417=)
c.981T>A (p.Arg327=)
c.11T>A
c.205T>A
c.1431T>A (p.Arg477=)
c.1365T>A (p.Arg455=)
c.1425T>A (p.Arg475=)
c.1371T>A (p.Arg457=)
c.1296T>A (p.Arg432=)
c.891T>A (p.Arg297=)
c.249T>A (p.Arg83=)
n.1674T>A
10g.71645926T>CCA470057994CDH23c.1236T>C (p.Arg412=)
c.667T>C
n.1072T>C
c.900T>C (p.Arg300=)
c.1251T>C (p.Arg417=)
c.981T>C (p.Arg327=)
c.11T>C
c.205T>C
c.1431T>C (p.Arg477=)
c.1365T>C (p.Arg455=)
c.1425T>C (p.Arg475=)
c.1371T>C (p.Arg457=)
c.1296T>C (p.Arg432=)
c.891T>C (p.Arg297=)
c.249T>C (p.Arg83=)
n.1674T>C
 dbSNP gnomAD v2
10g.71645926T>GCA470057993CDH23c.1236T>G (p.Arg412=)
c.667T>G
n.1072T>G
c.900T>G (p.Arg300=)
c.1251T>G (p.Arg417=)
c.981T>G (p.Arg327=)
c.11T>G
c.205T>G
c.1431T>G (p.Arg477=)
c.1365T>G (p.Arg455=)
c.1425T>G (p.Arg475=)
c.1371T>G (p.Arg457=)
c.1296T>G (p.Arg432=)
c.891T>G (p.Arg297=)
c.249T>G (p.Arg83=)
n.1674T>G
10g.71645926T=CA1918809280CDH23c.1236T= (p.Arg412=)
c.667T=
n.1072T=
c.900T= (p.Arg300=)
c.1251T= (p.Arg417=)
c.981T= (p.Arg327=)
c.11T=
c.205T=
c.1431T= (p.Arg477=)
c.1365T= (p.Arg455=)
c.1425T= (p.Arg475=)
c.1371T= (p.Arg457=)
c.1296T= (p.Arg432=)
c.891T= (p.Arg297=)
c.249T= (p.Arg83=)
n.1674T=
10g.71645927A>CCA377127772CDH23c.1237A>C (p.Ile413Leu)
c.668A>C
n.1073A>C
c.901A>C (p.Ile301Leu)
c.1252A>C (p.Ile418Leu)
c.982A>C (p.Ile328Leu)
c.12A>C
c.206A>C
c.1432A>C (p.Ile478Leu)
c.1366A>C (p.Ile456Leu)
c.1426A>C (p.Ile476Leu)
c.1372A>C (p.Ile458Leu)
c.1297A>C (p.Ile433Leu)
c.892A>C (p.Ile298Leu)
c.250A>C (p.Ile84Leu)
n.1675A>C
 gnomAD v4
10g.71645927A>GCA377127773CDH23c.1237A>G (p.Ile413Val)
c.668A>G
n.1073A>G
c.901A>G (p.Ile301Val)
c.1252A>G (p.Ile418Val)
c.982A>G (p.Ile328Val)
c.12A>G
c.206A>G
c.1432A>G (p.Ile478Val)
c.1366A>G (p.Ile456Val)
c.1426A>G (p.Ile476Val)
c.1372A>G (p.Ile458Val)
c.1297A>G (p.Ile433Val)
c.892A>G (p.Ile298Val)
c.250A>G (p.Ile84Val)
n.1675A>G
10g.71645927A>TCA377127774CDH23c.1237A>T (p.Ile413Phe)
c.668A>T
n.1073A>T
c.901A>T (p.Ile301Phe)
c.1252A>T (p.Ile418Phe)
c.982A>T (p.Ile328Phe)
c.12A>T
c.206A>T
c.1432A>T (p.Ile478Phe)
c.1366A>T (p.Ile456Phe)
c.1426A>T (p.Ile476Phe)
c.1372A>T (p.Ile458Phe)
c.1297A>T (p.Ile433Phe)
c.892A>T (p.Ile298Phe)
c.250A>T (p.Ile84Phe)
n.1675A>T
10g.71645928T>ACA377127775CDH23c.1238T>A (p.Ile413Asn)
c.669T>A
n.1074T>A
c.902T>A (p.Ile301Asn)
c.1253T>A (p.Ile418Asn)
c.983T>A (p.Ile328Asn)
c.13T>A
c.207T>A
c.1433T>A (p.Ile478Asn)
c.1367T>A (p.Ile456Asn)
c.1427T>A (p.Ile476Asn)
c.1373T>A (p.Ile458Asn)
c.1298T>A (p.Ile433Asn)
c.893T>A (p.Ile298Asn)
c.251T>A (p.Ile84Asn)
n.1676T>A
10g.71645928T>CCA377127776CDH23c.1238T>C (p.Ile413Thr)
c.669T>C
n.1074T>C
c.902T>C (p.Ile301Thr)
c.1253T>C (p.Ile418Thr)
c.983T>C (p.Ile328Thr)
c.13T>C
c.207T>C
c.1433T>C (p.Ile478Thr)
c.1367T>C (p.Ile456Thr)
c.1427T>C (p.Ile476Thr)
c.1373T>C (p.Ile458Thr)
c.1298T>C (p.Ile433Thr)
c.893T>C (p.Ile298Thr)
c.251T>C (p.Ile84Thr)
n.1676T>C
10g.71645928T>GCA377127777CDH23c.1238T>G (p.Ile413Ser)
c.669T>G
n.1074T>G
c.902T>G (p.Ile301Ser)
c.1253T>G (p.Ile418Ser)
c.983T>G (p.Ile328Ser)
c.13T>G
c.207T>G
c.1433T>G (p.Ile478Ser)
c.1367T>G (p.Ile456Ser)
c.1427T>G (p.Ile476Ser)
c.1373T>G (p.Ile458Ser)
c.1298T>G (p.Ile433Ser)
c.893T>G (p.Ile298Ser)
c.251T>G (p.Ile84Ser)
n.1676T>G
10g.71645929T>ACA470057996CDH23c.1239T>A (p.Ile413=)
c.670T>A
n.1075T>A
c.903T>A (p.Ile301=)
c.1254T>A (p.Ile418=)
c.984T>A (p.Ile328=)
c.14T>A
c.208T>A
c.1434T>A (p.Ile478=)
c.1368T>A (p.Ile456=)
c.1428T>A (p.Ile476=)
c.1374T>A (p.Ile458=)
c.1299T>A (p.Ile433=)
c.894T>A (p.Ile298=)
c.252T>A (p.Ile84=)
n.1677T>A
10g.71645929T>CCA470057997CDH23c.1239T>C (p.Ile413=)
c.670T>C
n.1075T>C
c.903T>C (p.Ile301=)
c.1254T>C (p.Ile418=)
c.984T>C (p.Ile328=)
c.14T>C
c.208T>C
c.1434T>C (p.Ile478=)
c.1368T>C (p.Ile456=)
c.1428T>C (p.Ile476=)
c.1374T>C (p.Ile458=)
c.1299T>C (p.Ile433=)
c.894T>C (p.Ile298=)
c.252T>C (p.Ile84=)
n.1677T>C
10g.71645929T>GCA377127778CDH23c.1239T>G (p.Ile413Met)
c.670T>G
n.1075T>G
c.903T>G (p.Ile301Met)
c.1254T>G (p.Ile418Met)
c.984T>G (p.Ile328Met)
c.14T>G
c.208T>G
c.1434T>G (p.Ile478Met)
c.1368T>G (p.Ile456Met)
c.1428T>G (p.Ile476Met)
c.1374T>G (p.Ile458Met)
c.1299T>G (p.Ile433Met)
c.894T>G (p.Ile298Met)
c.252T>G (p.Ile84Met)
n.1677T>G
10g.71645930C>ACA470057998CDH23c.1240C>A (p.Arg414=)
c.671C>A
n.1076C>A
c.904C>A (p.Arg302=)
c.1255C>A (p.Arg419=)
c.985C>A (p.Arg329=)
c.15C>A
c.209C>A
c.1435C>A (p.Arg479=)
c.1369C>A (p.Arg457=)
c.1429C>A (p.Arg477=)
c.1375C>A (p.Arg459=)
c.1300C>A (p.Arg434=)
c.895C>A (p.Arg299=)
c.253C>A (p.Arg85=)
n.1678C>A
10g.71645930C=CA1918809281CDH23c.1240C= (p.Arg414=)
c.671C=
n.1076C=
c.904C= (p.Arg302=)
c.1255C= (p.Arg419=)
c.985C= (p.Arg329=)
c.15C=
c.209C=
c.1435C= (p.Arg479=)
c.1369C= (p.Arg457=)
c.1429C= (p.Arg477=)
c.1375C= (p.Arg459=)
c.1300C= (p.Arg434=)
c.895C= (p.Arg299=)
c.253C= (p.Arg85=)
n.1678C=
10g.71645930C>GCA377127779CDH23c.1240C>G (p.Arg414Gly)
c.671C>G
n.1076C>G
c.904C>G (p.Arg302Gly)
c.1255C>G (p.Arg419Gly)
c.985C>G (p.Arg329Gly)
c.15C>G
c.209C>G
c.1435C>G (p.Arg479Gly)
c.1369C>G (p.Arg457Gly)
c.1429C>G (p.Arg477Gly)
c.1375C>G (p.Arg459Gly)
c.1300C>G (p.Arg434Gly)
c.895C>G (p.Arg299Gly)
c.253C>G (p.Arg85Gly)
n.1678C>G
10g.71645930C>TCA209442323CDH23c.1240C>T (p.Arg414Trp)
c.671C>T
n.1076C>T
c.904C>T (p.Arg302Trp)
c.1255C>T (p.Arg419Trp)
c.985C>T (p.Arg329Trp)
c.15C>T
c.209C>T
c.1435C>T (p.Arg479Trp)
c.1369C>T (p.Arg457Trp)
c.1429C>T (p.Arg477Trp)
c.1375C>T (p.Arg459Trp)
c.1300C>T (p.Arg434Trp)
c.895C>T (p.Arg299Trp)
c.253C>T (p.Arg85Trp)
n.1678C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.71645931G>ACA5543740CDH23c.1241G>A (p.Arg414Gln)
c.672G>A
n.1077G>A
c.905G>A (p.Arg302Gln)
c.1256G>A (p.Arg419Gln)
c.986G>A (p.Arg329Gln)
c.16G>A
c.210G>A
c.1436G>A (p.Arg479Gln)
c.1370G>A (p.Arg457Gln)
c.1430G>A (p.Arg477Gln)
c.1376G>A (p.Arg459Gln)
c.1301G>A (p.Arg434Gln)
c.896G>A (p.Arg299Gln)
c.254G>A (p.Arg85Gln)
n.1679G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
10g.71645931G>CCA377127780CDH23c.1241G>C (p.Arg414Pro)
c.672G>C
n.1077G>C
c.905G>C (p.Arg302Pro)
c.1256G>C (p.Arg419Pro)
c.986G>C (p.Arg329Pro)
c.16G>C
c.210G>C
c.1436G>C (p.Arg479Pro)
c.1370G>C (p.Arg457Pro)
c.1430G>C (p.Arg477Pro)
c.1376G>C (p.Arg459Pro)
c.1301G>C (p.Arg434Pro)
c.896G>C (p.Arg299Pro)
c.254G>C (p.Arg85Pro)
n.1679G>C
10g.71645931G=CA1918809282CDH23c.1241G= (p.Arg414=)
c.672G=
n.1077G=
c.905G= (p.Arg302=)
c.1256G= (p.Arg419=)
c.986G= (p.Arg329=)
c.16G=
c.210G=
c.1436G= (p.Arg479=)
c.1370G= (p.Arg457=)
c.1430G= (p.Arg477=)
c.1376G= (p.Arg459=)
c.1301G= (p.Arg434=)
c.896G= (p.Arg299=)
c.254G= (p.Arg85=)
n.1679G=
10g.71645931G>TCA377127781CDH23c.1241G>T (p.Arg414Leu)
c.672G>T
n.1077G>T
c.905G>T (p.Arg302Leu)
c.1256G>T (p.Arg419Leu)
c.986G>T (p.Arg329Leu)
c.16G>T
c.210G>T
c.1436G>T (p.Arg479Leu)
c.1370G>T (p.Arg457Leu)
c.1430G>T (p.Arg477Leu)
c.1376G>T (p.Arg459Leu)
c.1301G>T (p.Arg434Leu)
c.896G>T (p.Arg299Leu)
c.254G>T (p.Arg85Leu)
n.1679G>T
 ClinVar
10g.71645932G>ACA470057999CDH23c.1242G>A (p.Arg414=)
c.673G>A
n.1078G>A
c.906G>A (p.Arg302=)
c.1257G>A (p.Arg419=)
c.987G>A (p.Arg329=)
c.17G>A
c.211G>A
c.1437G>A (p.Arg479=)
c.1371G>A (p.Arg457=)
c.1431G>A (p.Arg477=)
c.1377G>A (p.Arg459=)
c.1302G>A (p.Arg434=)
c.897G>A (p.Arg299=)
c.255G>A (p.Arg85=)
n.1680G>A
10g.71645932G>CCA470058000CDH23c.1242G>C (p.Arg414=)
c.673G>C
n.1078G>C
c.906G>C (p.Arg302=)
c.1257G>C (p.Arg419=)
c.987G>C (p.Arg329=)
c.17G>C
c.211G>C
c.1437G>C (p.Arg479=)
c.1371G>C (p.Arg457=)
c.1431G>C (p.Arg477=)
c.1377G>C (p.Arg459=)
c.1302G>C (p.Arg434=)
c.897G>C (p.Arg299=)
c.255G>C (p.Arg85=)
n.1680G>C
10g.71645932G>TCA470058001CDH23c.1242G>T (p.Arg414=)
c.673G>T
n.1078G>T
c.906G>T (p.Arg302=)
c.1257G>T (p.Arg419=)
c.987G>T (p.Arg329=)
c.17G>T
c.211G>T
c.1437G>T (p.Arg479=)
c.1371G>T (p.Arg457=)
c.1431G>T (p.Arg477=)
c.1377G>T (p.Arg459=)
c.1302G>T (p.Arg434=)
c.897G>T (p.Arg299=)
c.255G>T (p.Arg85=)
n.1680G>T
10g.71645933G>ACA377127783CDH23c.1243G>A (p.Val415Met)
c.674G>A
n.1079G>A
c.907G>A (p.Val303Met)
c.1258G>A (p.Val420Met)
c.988G>A (p.Val330Met)
c.18G>A
c.212G>A
c.1438G>A (p.Val480Met)
c.1372G>A (p.Val458Met)
c.1432G>A (p.Val478Met)
c.1378G>A (p.Val460Met)
c.1303G>A (p.Val435Met)
c.898G>A (p.Val300Met)
c.256G>A (p.Val86Met)
n.1681G>A
 gnomAD v4
10g.71645933G>CCA377127782CDH23c.1243G>C (p.Val415Leu)
c.674G>C
n.1079G>C
c.907G>C (p.Val303Leu)
c.1258G>C (p.Val420Leu)
c.988G>C (p.Val330Leu)
c.18G>C
c.212G>C
c.1438G>C (p.Val480Leu)
c.1372G>C (p.Val458Leu)
c.1432G>C (p.Val478Leu)
c.1378G>C (p.Val460Leu)
c.1303G>C (p.Val435Leu)
c.898G>C (p.Val300Leu)
c.256G>C (p.Val86Leu)
n.1681G>C
10g.71645933G=CA1918809283CDH23c.1243G= (p.Val415=)
c.674G=
n.1079G=
c.907G= (p.Val303=)
c.1258G= (p.Val420=)
c.988G= (p.Val330=)
c.18G=
c.212G=
c.1438G= (p.Val480=)
c.1372G= (p.Val458=)
c.1432G= (p.Val478=)
c.1378G= (p.Val460=)
c.1303G= (p.Val435=)
c.898G= (p.Val300=)
c.256G= (p.Val86=)
n.1681G=
10g.71645933G>TCA5543741CDH23c.1243G>T (p.Val415Leu)
c.674G>T
n.1079G>T
c.907G>T (p.Val303Leu)
c.1258G>T (p.Val420Leu)
c.988G>T (p.Val330Leu)
c.18G>T
c.212G>T
c.1438G>T (p.Val480Leu)
c.1372G>T (p.Val458Leu)
c.1432G>T (p.Val478Leu)
c.1378G>T (p.Val460Leu)
c.1303G>T (p.Val435Leu)
c.898G>T (p.Val300Leu)
c.256G>T (p.Val86Leu)
n.1681G>T
 dbSNP ExAC gnomAD v2
10g.71645934T>ACA377127784CDH23c.1244T>A (p.Val415Glu)
c.675T>A
n.1080T>A
c.908T>A (p.Val303Glu)
c.1259T>A (p.Val420Glu)
c.989T>A (p.Val330Glu)
c.19T>A
c.213T>A
c.1439T>A (p.Val480Glu)
c.1373T>A (p.Val458Glu)
c.1433T>A (p.Val478Glu)
c.1379T>A (p.Val460Glu)
c.1304T>A (p.Val435Glu)
c.899T>A (p.Val300Glu)
c.257T>A (p.Val86Glu)
n.1682T>A
10g.71645934T>CCA377127785CDH23c.1244T>C (p.Val415Ala)
c.675T>C
n.1080T>C
c.908T>C (p.Val303Ala)
c.1259T>C (p.Val420Ala)
c.989T>C (p.Val330Ala)
c.19T>C
c.213T>C
c.1439T>C (p.Val480Ala)
c.1373T>C (p.Val458Ala)
c.1433T>C (p.Val478Ala)
c.1379T>C (p.Val460Ala)
c.1304T>C (p.Val435Ala)
c.899T>C (p.Val300Ala)
c.257T>C (p.Val86Ala)
n.1682T>C
10g.71645934T>GCA377127786CDH23c.1244T>G (p.Val415Gly)
c.675T>G
n.1080T>G
c.908T>G (p.Val303Gly)
c.1259T>G (p.Val420Gly)
c.989T>G (p.Val330Gly)
c.19T>G
c.213T>G
c.1439T>G (p.Val480Gly)
c.1373T>G (p.Val458Gly)
c.1433T>G (p.Val478Gly)
c.1379T>G (p.Val460Gly)
c.1304T>G (p.Val435Gly)
c.899T>G (p.Val300Gly)
c.257T>G (p.Val86Gly)
n.1682T>G
10g.71645934_71645955delinsTGGCCATCCCACTGGACTACGACA1918809284CDH23c.1244_1265delinsTGGCCATCCCACTGGACTACGA (p.Val415=)
c.675_696delinsTGGCCATCCCACTGGACTACGA
n.1080_1101delinsTGGCCATCCCACTGGACTACGA
c.908_929delinsTGGCCATCCCACTGGACTACGA (p.Val303=)
c.1259_1280delinsTGGCCATCCCACTGGACTACGA (p.Val420=)
c.989_1010delinsTGGCCATCCCACTGGACTACGA (p.Val330=)
c.19_40delinsTGGCCATCCCACTGGACTACGA
c.213_234delinsTGGCCATCCCACTGGACTACGA
c.1439_1460delinsTGGCCATCCCACTGGACTACGA (p.Val480=)
c.1373_1394delinsTGGCCATCCCACTGGACTACGA (p.Val458=)
c.1433_1454delinsTGGCCATCCCACTGGACTACGA (p.Val478=)
c.1379_1400delinsTGGCCATCCCACTGGACTACGA (p.Val460=)
c.1304_1325delinsTGGCCATCCCACTGGACTACGA (p.Val435=)
c.899_920delinsTGGCCATCCCACTGGACTACGA (p.Val300=)
c.257_278delinsTGGCCATCCCACTGGACTACGA (p.Val86=)
n.1682_1703delinsTGGCCATCCCACTGGACTACGA
10g.71645935G>ACA470058003CDH23c.1245G>A (p.Val415=)
c.676G>A
n.1081G>A
c.909G>A (p.Val303=)
c.1260G>A (p.Val420=)
c.990G>A (p.Val330=)
c.20G>A
c.214G>A
c.1440G>A (p.Val480=)
c.1374G>A (p.Val458=)
c.1434G>A (p.Val478=)
c.1380G>A (p.Val460=)
c.1305G>A (p.Val435=)
c.900G>A (p.Val300=)
c.258G>A (p.Val86=)
n.1683G>A
 dbSNP gnomAD v2 gnomAD v4
10g.71645935G>CCA470058004CDH23c.1245G>C (p.Val415=)
c.676G>C
n.1081G>C
c.909G>C (p.Val303=)
c.1260G>C (p.Val420=)
c.990G>C (p.Val330=)
c.20G>C
c.214G>C
c.1440G>C (p.Val480=)
c.1374G>C (p.Val458=)
c.1434G>C (p.Val478=)
c.1380G>C (p.Val460=)
c.1305G>C (p.Val435=)
c.900G>C (p.Val300=)
c.258G>C (p.Val86=)
n.1683G>C
10g.71645935G=CA1918809285CDH23c.1245G= (p.Val415=)
c.676G=
n.1081G=
c.909G= (p.Val303=)
c.1260G= (p.Val420=)
c.990G= (p.Val330=)
c.20G=
c.214G=
c.1440G= (p.Val480=)
c.1374G= (p.Val458=)
c.1434G= (p.Val478=)
c.1380G= (p.Val460=)
c.1305G= (p.Val435=)
c.900G= (p.Val300=)
c.258G= (p.Val86=)
n.1683G=
10g.71645935G>TCA470058005CDH23c.1245G>T (p.Val415=)
c.676G>T
n.1081G>T
c.909G>T (p.Val303=)
c.1260G>T (p.Val420=)
c.990G>T (p.Val330=)
c.20G>T
c.214G>T
c.1440G>T (p.Val480=)
c.1374G>T (p.Val458=)
c.1434G>T (p.Val478=)
c.1380G>T (p.Val460=)
c.1305G>T (p.Val435=)
c.900G>T (p.Val300=)
c.258G>T (p.Val86=)
n.1683G>T
10g.71645936_71645956delCA261773CDH23c.1246_1266del (p.Ala416_Glu422del)
c.677_697del
n.1082_1102del
c.910_930del (p.Ala304_Glu310del)
c.1261_1281del (p.Ala421_Glu427del)
c.991_1011del (p.Ala331_Glu337del)
c.21_41del
c.215_235del
c.1441_1461del (p.Ala481_Glu487del)
c.1375_1395del (p.Ala459_Glu465del)
c.1435_1455del (p.Ala479_Glu485del)
c.1381_1401del (p.Ala461_Glu467del)
c.1306_1326del (p.Ala436_Glu442del)
c.901_921del (p.Ala301_Glu307del)
c.259_279del (p.Ala87_Glu93del)
n.1684_1704del
 ClinVar dbSNP gnomAD v4
10g.71645936G>ACA377127787CDH23c.1246G>A (p.Ala416Thr)
c.677G>A
n.1082G>A
c.910G>A (p.Ala304Thr)
c.1261G>A (p.Ala421Thr)
c.991G>A (p.Ala331Thr)
c.21G>A
c.215G>A
c.1441G>A (p.Ala481Thr)
c.1375G>A (p.Ala459Thr)
c.1435G>A (p.Ala479Thr)
c.1381G>A (p.Ala461Thr)
c.1306G>A (p.Ala436Thr)
c.901G>A (p.Ala301Thr)
c.259G>A (p.Ala87Thr)
n.1684G>A
 dbSNP
10g.71645936G>CCA377127788CDH23c.1246G>C (p.Ala416Pro)
c.677G>C
n.1082G>C
c.910G>C (p.Ala304Pro)
c.1261G>C (p.Ala421Pro)
c.991G>C (p.Ala331Pro)
c.21G>C
c.215G>C
c.1441G>C (p.Ala481Pro)
c.1375G>C (p.Ala459Pro)
c.1435G>C (p.Ala479Pro)
c.1381G>C (p.Ala461Pro)
c.1306G>C (p.Ala436Pro)
c.901G>C (p.Ala301Pro)
c.259G>C (p.Ala87Pro)
n.1684G>C
10g.71645936G>TCA377127789CDH23c.1246G>T (p.Ala416Ser)
c.677G>T
n.1082G>T
c.910G>T (p.Ala304Ser)
c.1261G>T (p.Ala421Ser)
c.991G>T (p.Ala331Ser)
c.21G>T
c.215G>T
c.1441G>T (p.Ala481Ser)
c.1375G>T (p.Ala459Ser)
c.1435G>T (p.Ala479Ser)
c.1381G>T (p.Ala461Ser)
c.1306G>T (p.Ala436Ser)
c.901G>T (p.Ala301Ser)
c.259G>T (p.Ala87Ser)
n.1684G>T
10g.71645937C>ACA377127790CDH23c.1247C>A (p.Ala416Asp)
c.678C>A
n.1083C>A
c.911C>A (p.Ala304Asp)
c.1262C>A (p.Ala421Asp)
c.992C>A (p.Ala331Asp)
c.22C>A
c.216C>A
c.1442C>A (p.Ala481Asp)
c.1376C>A (p.Ala459Asp)
c.1436C>A (p.Ala479Asp)
c.1382C>A (p.Ala461Asp)
c.1307C>A (p.Ala436Asp)
c.902C>A (p.Ala301Asp)
c.260C>A (p.Ala87Asp)
n.1685C>A
10g.71645937C>GCA377127791CDH23c.1247C>G (p.Ala416Gly)
c.678C>G
n.1083C>G
c.911C>G (p.Ala304Gly)
c.1262C>G (p.Ala421Gly)
c.992C>G (p.Ala331Gly)
c.22C>G
c.216C>G
c.1442C>G (p.Ala481Gly)
c.1376C>G (p.Ala459Gly)
c.1436C>G (p.Ala479Gly)
c.1382C>G (p.Ala461Gly)
c.1307C>G (p.Ala436Gly)
c.902C>G (p.Ala301Gly)
c.260C>G (p.Ala87Gly)
n.1685C>G
10g.71645937C>TCA377127792CDH23c.1247C>T (p.Ala416Val)
c.678C>T
n.1083C>T
c.911C>T (p.Ala304Val)
c.1262C>T (p.Ala421Val)
c.992C>T (p.Ala331Val)
c.22C>T
c.216C>T
c.1442C>T (p.Ala481Val)
c.1376C>T (p.Ala459Val)
c.1436C>T (p.Ala479Val)
c.1382C>T (p.Ala461Val)
c.1307C>T (p.Ala436Val)
c.902C>T (p.Ala301Val)
c.260C>T (p.Ala87Val)
n.1685C>T
 dbSNP gnomAD v4
10g.71645938C>ACA470058006CDH23c.1248C>A (p.Ala416=)
c.679C>A
n.1084C>A
c.912C>A (p.Ala304=)
c.1263C>A (p.Ala421=)
c.993C>A (p.Ala331=)
c.23C>A
c.217C>A
c.1443C>A (p.Ala481=)
c.1377C>A (p.Ala459=)
c.1437C>A (p.Ala479=)
c.1383C>A (p.Ala461=)
c.1308C>A (p.Ala436=)
c.903C>A (p.Ala301=)
c.261C>A (p.Ala87=)
n.1686C>A
10g.71645938C>GCA470058007CDH23c.1248C>G (p.Ala416=)
c.679C>G
n.1084C>G
c.912C>G (p.Ala304=)
c.1263C>G (p.Ala421=)
c.993C>G (p.Ala331=)
c.23C>G
c.217C>G
c.1443C>G (p.Ala481=)
c.1377C>G (p.Ala459=)
c.1437C>G (p.Ala479=)
c.1383C>G (p.Ala461=)
c.1308C>G (p.Ala436=)
c.903C>G (p.Ala301=)
c.261C>G (p.Ala87=)
n.1686C>G
10g.71645938C>TCA470058008CDH23c.1248C>T (p.Ala416=)
c.679C>T
n.1084C>T
c.912C>T (p.Ala304=)
c.1263C>T (p.Ala421=)
c.993C>T (p.Ala331=)
c.23C>T
c.217C>T
c.1443C>T (p.Ala481=)
c.1377C>T (p.Ala459=)
c.1437C>T (p.Ala479=)
c.1383C>T (p.Ala461=)
c.1308C>T (p.Ala436=)
c.903C>T (p.Ala301=)
c.261C>T (p.Ala87=)
n.1686C>T
 gnomAD v4
10g.71645939A=CA1918809286CDH23c.1249A= (p.Ile417=)
c.680A=
n.1085A=
c.913A= (p.Ile305=)
c.1264A= (p.Ile422=)
c.994A= (p.Ile332=)
c.24A=
c.218A=
c.1444A= (p.Ile482=)
c.1378A= (p.Ile460=)
c.1438A= (p.Ile480=)
c.1384A= (p.Ile462=)
c.1309A= (p.Ile437=)
c.904A= (p.Ile302=)
c.262A= (p.Ile88=)
n.1687A=
10g.71645939A>CCA377127793CDH23c.1249A>C (p.Ile417Leu)
c.680A>C
n.1085A>C
c.913A>C (p.Ile305Leu)
c.1264A>C (p.Ile422Leu)
c.994A>C (p.Ile332Leu)
c.24A>C
c.218A>C
c.1444A>C (p.Ile482Leu)
c.1378A>C (p.Ile460Leu)
c.1438A>C (p.Ile480Leu)
c.1384A>C (p.Ile462Leu)
c.1309A>C (p.Ile437Leu)
c.904A>C (p.Ile302Leu)
c.262A>C (p.Ile88Leu)
n.1687A>C
10g.71645939A>GCA209442340CDH23c.1249A>G (p.Ile417Val)
c.680A>G
n.1085A>G
c.913A>G (p.Ile305Val)
c.1264A>G (p.Ile422Val)
c.994A>G (p.Ile332Val)
c.24A>G
c.218A>G
c.1444A>G (p.Ile482Val)
c.1378A>G (p.Ile460Val)
c.1438A>G (p.Ile480Val)
c.1384A>G (p.Ile462Val)
c.1309A>G (p.Ile437Val)
c.904A>G (p.Ile302Val)
c.262A>G (p.Ile88Val)
n.1687A>G
 dbSNP gnomAD v4
10g.71645939A>TCA377127794CDH23c.1249A>T (p.Ile417Phe)
c.680A>T
n.1085A>T
c.913A>T (p.Ile305Phe)
c.1264A>T (p.Ile422Phe)
c.994A>T (p.Ile332Phe)
c.24A>T
c.218A>T
c.1444A>T (p.Ile482Phe)
c.1378A>T (p.Ile460Phe)
c.1438A>T (p.Ile480Phe)
c.1384A>T (p.Ile462Phe)
c.1309A>T (p.Ile437Phe)
c.904A>T (p.Ile302Phe)
c.262A>T (p.Ile88Phe)
n.1687A>T
10g.71645940T>ACA377127796CDH23c.1250T>A (p.Ile417Asn)
c.681T>A
n.1086T>A
c.914T>A (p.Ile305Asn)
c.1265T>A (p.Ile422Asn)
c.995T>A (p.Ile332Asn)
c.25T>A
c.219T>A
c.1445T>A (p.Ile482Asn)
c.1379T>A (p.Ile460Asn)
c.1439T>A (p.Ile480Asn)
c.1385T>A (p.Ile462Asn)
c.1310T>A (p.Ile437Asn)
c.905T>A (p.Ile302Asn)
c.263T>A (p.Ile88Asn)
n.1688T>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71645940T>CCA377127797CDH23c.1250T>C (p.Ile417Thr)
c.681T>C
n.1086T>C
c.914T>C (p.Ile305Thr)
c.1265T>C (p.Ile422Thr)
c.995T>C (p.Ile332Thr)
c.25T>C
c.219T>C
c.1445T>C (p.Ile482Thr)
c.1379T>C (p.Ile460Thr)
c.1439T>C (p.Ile480Thr)
c.1385T>C (p.Ile462Thr)
c.1310T>C (p.Ile437Thr)
c.905T>C (p.Ile302Thr)
c.263T>C (p.Ile88Thr)
n.1688T>C
10g.71645940T>GCA377127795CDH23c.1250T>G (p.Ile417Ser)
c.681T>G
n.1086T>G
c.914T>G (p.Ile305Ser)
c.1265T>G (p.Ile422Ser)
c.995T>G (p.Ile332Ser)
c.25T>G
c.219T>G
c.1445T>G (p.Ile482Ser)
c.1379T>G (p.Ile460Ser)
c.1439T>G (p.Ile480Ser)
c.1385T>G (p.Ile462Ser)
c.1310T>G (p.Ile437Ser)
c.905T>G (p.Ile302Ser)
c.263T>G (p.Ile88Ser)
n.1688T>G
10g.71645940T=CA1918809287CDH23c.1250T= (p.Ile417=)
c.681T=
n.1086T=
c.914T= (p.Ile305=)
c.1265T= (p.Ile422=)
c.995T= (p.Ile332=)
c.25T=
c.219T=
c.1445T= (p.Ile482=)
c.1379T= (p.Ile460=)
c.1439T= (p.Ile480=)
c.1385T= (p.Ile462=)
c.1310T= (p.Ile437=)
c.905T= (p.Ile302=)
c.263T= (p.Ile88=)
n.1688T=
10g.71645941C>ACA470058009CDH23c.1251C>A (p.Ile417=)
c.682C>A
n.1087C>A
c.915C>A (p.Ile305=)
c.1266C>A (p.Ile422=)
c.996C>A (p.Ile332=)
c.26C>A
c.220C>A
c.1446C>A (p.Ile482=)
c.1380C>A (p.Ile460=)
c.1440C>A (p.Ile480=)
c.1386C>A (p.Ile462=)
c.1311C>A (p.Ile437=)
c.906C>A (p.Ile302=)
c.264C>A (p.Ile88=)
n.1689C>A
10g.71645941C>GCA377127798CDH23c.1251C>G (p.Ile417Met)
c.682C>G
n.1087C>G
c.915C>G (p.Ile305Met)
c.1266C>G (p.Ile422Met)
c.996C>G (p.Ile332Met)
c.26C>G
c.220C>G
c.1446C>G (p.Ile482Met)
c.1380C>G (p.Ile460Met)
c.1440C>G (p.Ile480Met)
c.1386C>G (p.Ile462Met)
c.1311C>G (p.Ile437Met)
c.906C>G (p.Ile302Met)
c.264C>G (p.Ile88Met)
n.1689C>G
10g.71645941C>TCA470058010CDH23c.1251C>T (p.Ile417=)
c.682C>T
n.1087C>T
c.915C>T (p.Ile305=)
c.1266C>T (p.Ile422=)
c.996C>T (p.Ile332=)
c.26C>T
c.220C>T
c.1446C>T (p.Ile482=)
c.1380C>T (p.Ile460=)
c.1440C>T (p.Ile480=)
c.1386C>T (p.Ile462=)
c.1311C>T (p.Ile437=)
c.906C>T (p.Ile302=)
c.264C>T (p.Ile88=)
n.1689C>T
10g.71645942C>ACA377127799CDH23c.1252C>A (p.Pro418Thr)
c.683C>A
n.1088C>A
c.916C>A (p.Pro306Thr)
c.1267C>A (p.Pro423Thr)
c.997C>A (p.Pro333Thr)
c.27C>A
c.221C>A
c.1447C>A (p.Pro483Thr)
c.1381C>A (p.Pro461Thr)
c.1441C>A (p.Pro481Thr)
c.1387C>A (p.Pro463Thr)
c.1312C>A (p.Pro438Thr)
c.907C>A (p.Pro303Thr)
c.265C>A (p.Pro89Thr)
n.1690C>A
10g.71645942C>GCA377127801CDH23c.1252C>G (p.Pro418Ala)
c.683C>G
n.1088C>G
c.916C>G (p.Pro306Ala)
c.1267C>G (p.Pro423Ala)
c.997C>G (p.Pro333Ala)
c.27C>G
c.221C>G
c.1447C>G (p.Pro483Ala)
c.1381C>G (p.Pro461Ala)
c.1441C>G (p.Pro481Ala)
c.1387C>G (p.Pro463Ala)
c.1312C>G (p.Pro438Ala)
c.907C>G (p.Pro303Ala)
c.265C>G (p.Pro89Ala)
n.1690C>G
 gnomAD v4
10g.71645942C>TCA377127800CDH23c.1252C>T (p.Pro418Ser)
c.683C>T
n.1088C>T
c.916C>T (p.Pro306Ser)
c.1267C>T (p.Pro423Ser)
c.997C>T (p.Pro333Ser)
c.27C>T
c.221C>T
c.1447C>T (p.Pro483Ser)
c.1381C>T (p.Pro461Ser)
c.1441C>T (p.Pro481Ser)
c.1387C>T (p.Pro463Ser)
c.1312C>T (p.Pro438Ser)
c.907C>T (p.Pro303Ser)
c.265C>T (p.Pro89Ser)
n.1690C>T
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
10g.71645943C>ACA377127802CDH23c.1253C>A (p.Pro418Gln)
c.684C>A
n.1089C>A
c.917C>A (p.Pro306Gln)
c.1268C>A (p.Pro423Gln)
c.998C>A (p.Pro333Gln)
c.28C>A
c.222C>A
c.1448C>A (p.Pro483Gln)
c.1382C>A (p.Pro461Gln)
c.1442C>A (p.Pro481Gln)
c.1388C>A (p.Pro463Gln)
c.1313C>A (p.Pro438Gln)
c.908C>A (p.Pro303Gln)
c.266C>A (p.Pro89Gln)
n.1691C>A
10g.71645943C=CA1918809288CDH23c.1253C= (p.Pro418=)
c.684C=
n.1089C=
c.917C= (p.Pro306=)
c.1268C= (p.Pro423=)
c.998C= (p.Pro333=)
c.28C=
c.222C=
c.1448C= (p.Pro483=)
c.1382C= (p.Pro461=)
c.1442C= (p.Pro481=)
c.1388C= (p.Pro463=)
c.1313C= (p.Pro438=)
c.908C= (p.Pro303=)
c.266C= (p.Pro89=)
n.1691C=
10g.71645943C>GCA377127803CDH23c.1253C>G (p.Pro418Arg)
c.684C>G
n.1089C>G
c.917C>G (p.Pro306Arg)
c.1268C>G (p.Pro423Arg)
c.998C>G (p.Pro333Arg)
c.28C>G
c.222C>G
c.1448C>G (p.Pro483Arg)
c.1382C>G (p.Pro461Arg)
c.1442C>G (p.Pro481Arg)
c.1388C>G (p.Pro463Arg)
c.1313C>G (p.Pro438Arg)
c.908C>G (p.Pro303Arg)
c.266C>G (p.Pro89Arg)
n.1691C>G
10g.71645943C>TCA5543742CDH23c.1253C>T (p.Pro418Leu)
c.684C>T
n.1089C>T
c.917C>T (p.Pro306Leu)
c.1268C>T (p.Pro423Leu)
c.998C>T (p.Pro333Leu)
c.28C>T
c.222C>T
c.1448C>T (p.Pro483Leu)
c.1382C>T (p.Pro461Leu)
c.1442C>T (p.Pro481Leu)
c.1388C>T (p.Pro463Leu)
c.1313C>T (p.Pro438Leu)
c.908C>T (p.Pro303Leu)
c.266C>T (p.Pro89Leu)
n.1691C>T
 dbSNP ExAC gnomAD v2
10g.71645944A>CCA470058013CDH23c.1254A>C (p.Pro418=)
c.685A>C
n.1090A>C
c.918A>C (p.Pro306=)
c.1269A>C (p.Pro423=)
c.999A>C (p.Pro333=)
c.29A>C
c.223A>C
c.1449A>C (p.Pro483=)
c.1383A>C (p.Pro461=)
c.1443A>C (p.Pro481=)
c.1389A>C (p.Pro463=)
c.1314A>C (p.Pro438=)
c.909A>C (p.Pro303=)
c.267A>C (p.Pro89=)
n.1692A>C
10g.71645944A>GCA470058011CDH23c.1254A>G (p.Pro418=)
c.685A>G
n.1090A>G
c.918A>G (p.Pro306=)
c.1269A>G (p.Pro423=)
c.999A>G (p.Pro333=)
c.29A>G
c.223A>G
c.1449A>G (p.Pro483=)
c.1383A>G (p.Pro461=)
c.1443A>G (p.Pro481=)
c.1389A>G (p.Pro463=)
c.1314A>G (p.Pro438=)
c.909A>G (p.Pro303=)
c.267A>G (p.Pro89=)
n.1692A>G
10g.71645944A>TCA470058012CDH23c.1254A>T (p.Pro418=)
c.685A>T
n.1090A>T
c.918A>T (p.Pro306=)
c.1269A>T (p.Pro423=)
c.999A>T (p.Pro333=)
c.29A>T
c.223A>T
c.1449A>T (p.Pro483=)
c.1383A>T (p.Pro461=)
c.1443A>T (p.Pro481=)
c.1389A>T (p.Pro463=)
c.1314A>T (p.Pro438=)
c.909A>T (p.Pro303=)
c.267A>T (p.Pro89=)
n.1692A>T
10g.71645945delCA2695212101CDH23c.1255del (p.Leu419TrpfsTer28)
c.686del
n.1091del
c.919del (p.Leu307TrpfsTer28)
c.1270del (p.Leu424TrpfsTer28)
c.1000del (p.Leu334TrpfsTer28)
c.30del
c.224del
c.1450del (p.Leu484TrpfsTer28)
c.1384del (p.Leu462TrpfsTer28)
c.1444del (p.Leu482TrpfsTer28)
c.1390del (p.Leu464TrpfsTer28)
c.1315del (p.Leu439TrpfsTer28)
c.910del (p.Leu304TrpfsTer28)
c.268del (p.Leu90TrpfsTer28)
n.1693del
10g.71645945C>ACA377127804CDH23c.1255C>A (p.Leu419Met)
c.686C>A
n.1091C>A
c.919C>A (p.Leu307Met)
c.1270C>A (p.Leu424Met)
c.1000C>A (p.Leu334Met)
c.30C>A
c.224C>A
c.1450C>A (p.Leu484Met)
c.1384C>A (p.Leu462Met)
c.1444C>A (p.Leu482Met)
c.1390C>A (p.Leu464Met)
c.1315C>A (p.Leu439Met)
c.910C>A (p.Leu304Met)
c.268C>A (p.Leu90Met)
n.1693C>A
 dbSNP gnomAD v2 gnomAD v4
10g.71645945C=CA1918809289CDH23c.1255C= (p.Leu419=)
c.686C=
n.1091C=
c.919C= (p.Leu307=)
c.1270C= (p.Leu424=)
c.1000C= (p.Leu334=)
c.30C=
c.224C=
c.1450C= (p.Leu484=)
c.1384C= (p.Leu462=)
c.1444C= (p.Leu482=)
c.1390C= (p.Leu464=)
c.1315C= (p.Leu439=)
c.910C= (p.Leu304=)
c.268C= (p.Leu90=)
n.1693C=
10g.71645945C>GCA377127805CDH23c.1255C>G (p.Leu419Val)
c.686C>G
n.1091C>G
c.919C>G (p.Leu307Val)
c.1270C>G (p.Leu424Val)
c.1000C>G (p.Leu334Val)
c.30C>G
c.224C>G
c.1450C>G (p.Leu484Val)
c.1384C>G (p.Leu462Val)
c.1444C>G (p.Leu482Val)
c.1390C>G (p.Leu464Val)
c.1315C>G (p.Leu439Val)
c.910C>G (p.Leu304Val)
c.268C>G (p.Leu90Val)
n.1693C>G
10g.71645945C>TCA470058014CDH23c.1255C>T (p.Leu419=)
c.686C>T
n.1091C>T
c.919C>T (p.Leu307=)
c.1270C>T (p.Leu424=)
c.1000C>T (p.Leu334=)
c.30C>T
c.224C>T
c.1450C>T (p.Leu484=)
c.1384C>T (p.Leu462=)
c.1444C>T (p.Leu482=)
c.1390C>T (p.Leu464=)
c.1315C>T (p.Leu439=)
c.910C>T (p.Leu304=)
c.268C>T (p.Leu90=)
n.1693C>T
10g.71645946T>ACA377127806CDH23c.1256T>A (p.Leu419Gln)
c.687T>A
n.1092T>A
c.920T>A (p.Leu307Gln)
c.1271T>A (p.Leu424Gln)
c.1001T>A (p.Leu334Gln)
c.31T>A
c.225T>A
c.1451T>A (p.Leu484Gln)
c.1385T>A (p.Leu462Gln)
c.1445T>A (p.Leu482Gln)
c.1391T>A (p.Leu464Gln)
c.1316T>A (p.Leu439Gln)
c.911T>A (p.Leu304Gln)
c.269T>A (p.Leu90Gln)
n.1694T>A
10g.71645946T>CCA377127807CDH23c.1256T>C (p.Leu419Pro)
c.687T>C
n.1092T>C
c.920T>C (p.Leu307Pro)
c.1271T>C (p.Leu424Pro)
c.1001T>C (p.Leu334Pro)
c.31T>C
c.225T>C
c.1451T>C (p.Leu484Pro)
c.1385T>C (p.Leu462Pro)
c.1445T>C (p.Leu482Pro)
c.1391T>C (p.Leu464Pro)
c.1316T>C (p.Leu439Pro)
c.911T>C (p.Leu304Pro)
c.269T>C (p.Leu90Pro)
n.1694T>C
 gnomAD v4
10g.71645946T>GCA377127808CDH23c.1256T>G (p.Leu419Arg)
c.687T>G
n.1092T>G
c.920T>G (p.Leu307Arg)
c.1271T>G (p.Leu424Arg)
c.1001T>G (p.Leu334Arg)
c.31T>G
c.225T>G
c.1451T>G (p.Leu484Arg)
c.1385T>G (p.Leu462Arg)
c.1445T>G (p.Leu482Arg)
c.1391T>G (p.Leu464Arg)
c.1316T>G (p.Leu439Arg)
c.911T>G (p.Leu304Arg)
c.269T>G (p.Leu90Arg)
n.1694T>G
10g.71645947G>ACA470058016CDH23c.1257G>A (p.Leu419=)
c.688G>A
n.1093G>A
c.921G>A (p.Leu307=)
c.1272G>A (p.Leu424=)
c.1002G>A (p.Leu334=)
c.32G>A
c.226G>A
c.1452G>A (p.Leu484=)
c.1386G>A (p.Leu462=)
c.1446G>A (p.Leu482=)
c.1392G>A (p.Leu464=)
c.1317G>A (p.Leu439=)
c.912G>A (p.Leu304=)
c.270G>A (p.Leu90=)
n.1695G>A
10g.71645947G>CCA209442357CDH23c.1257G>C (p.Leu419=)
c.688G>C
n.1093G>C
c.921G>C (p.Leu307=)
c.1272G>C (p.Leu424=)
c.1002G>C (p.Leu334=)
c.32G>C
c.226G>C
c.1452G>C (p.Leu484=)
c.1386G>C (p.Leu462=)
c.1446G>C (p.Leu482=)
c.1392G>C (p.Leu464=)
c.1317G>C (p.Leu439=)
c.912G>C (p.Leu304=)
c.270G>C (p.Leu90=)
n.1695G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71645947G=CA1918809290CDH23c.1257G= (p.Leu419=)
c.688G=
n.1093G=
c.921G= (p.Leu307=)
c.1272G= (p.Leu424=)
c.1002G= (p.Leu334=)
c.32G=
c.226G=
c.1452G= (p.Leu484=)
c.1386G= (p.Leu462=)
c.1446G= (p.Leu482=)
c.1392G= (p.Leu464=)
c.1317G= (p.Leu439=)
c.912G= (p.Leu304=)
c.270G= (p.Leu90=)
n.1695G=
10g.71645947G>TCA470058015CDH23c.1257G>T (p.Leu419=)
c.688G>T
n.1093G>T
c.921G>T (p.Leu307=)
c.1272G>T (p.Leu424=)
c.1002G>T (p.Leu334=)
c.32G>T
c.226G>T
c.1452G>T (p.Leu484=)
c.1386G>T (p.Leu462=)
c.1446G>T (p.Leu482=)
c.1392G>T (p.Leu464=)
c.1317G>T (p.Leu439=)
c.912G>T (p.Leu304=)
c.270G>T (p.Leu90=)
n.1695G>T
10g.71645948G>ACA377127809CDH23c.1258G>A (p.Asp420Asn)
c.689G>A
n.1094G>A
c.922G>A (p.Asp308Asn)
c.1273G>A (p.Asp425Asn)
c.1003G>A (p.Asp335Asn)
c.33G>A
c.227G>A
c.1453G>A (p.Asp485Asn)
c.1387G>A (p.Asp463Asn)
c.1447G>A (p.Asp483Asn)
c.1393G>A (p.Asp465Asn)
c.1318G>A (p.Asp440Asn)
c.913G>A (p.Asp305Asn)
c.271G>A (p.Asp91Asn)
n.1696G>A
10g.71645948G>CCA377127810CDH23c.1258G>C (p.Asp420His)
c.689G>C
n.1094G>C
c.922G>C (p.Asp308His)
c.1273G>C (p.Asp425His)
c.1003G>C (p.Asp335His)
c.33G>C
c.227G>C
c.1453G>C (p.Asp485His)
c.1387G>C (p.Asp463His)
c.1447G>C (p.Asp483His)
c.1393G>C (p.Asp465His)
c.1318G>C (p.Asp440His)
c.913G>C (p.Asp305His)
c.271G>C (p.Asp91His)
n.1696G>C
10g.71645948G>TCA377127811CDH23c.1258G>T (p.Asp420Tyr)
c.689G>T
n.1094G>T
c.922G>T (p.Asp308Tyr)
c.1273G>T (p.Asp425Tyr)
c.1003G>T (p.Asp335Tyr)
c.33G>T
c.227G>T
c.1453G>T (p.Asp485Tyr)
c.1387G>T (p.Asp463Tyr)
c.1447G>T (p.Asp483Tyr)
c.1393G>T (p.Asp465Tyr)
c.1318G>T (p.Asp440Tyr)
c.913G>T (p.Asp305Tyr)
c.271G>T (p.Asp91Tyr)
n.1696G>T
10g.71645949A=CA1918809291CDH23c.1259A= (p.Asp420=)
c.690A=
n.1095A=
c.923A= (p.Asp308=)
c.1274A= (p.Asp425=)
c.1004A= (p.Asp335=)
c.34A=
c.228A=
c.1454A= (p.Asp485=)
c.1388A= (p.Asp463=)
c.1448A= (p.Asp483=)
c.1394A= (p.Asp465=)
c.1319A= (p.Asp440=)
c.914A= (p.Asp305=)
c.272A= (p.Asp91=)
n.1697A=
10g.71645949A>CCA377127812CDH23c.1259A>C (p.Asp420Ala)
c.690A>C
n.1095A>C
c.923A>C (p.Asp308Ala)
c.1274A>C (p.Asp425Ala)
c.1004A>C (p.Asp335Ala)
c.34A>C
c.228A>C
c.1454A>C (p.Asp485Ala)
c.1388A>C (p.Asp463Ala)
c.1448A>C (p.Asp483Ala)
c.1394A>C (p.Asp465Ala)
c.1319A>C (p.Asp440Ala)
c.914A>C (p.Asp305Ala)
c.272A>C (p.Asp91Ala)
n.1697A>C
10g.71645949A>GCA377127813CDH23c.1259A>G (p.Asp420Gly)
c.690A>G
n.1095A>G
c.923A>G (p.Asp308Gly)
c.1274A>G (p.Asp425Gly)
c.1004A>G (p.Asp335Gly)
c.34A>G
c.228A>G
c.1454A>G (p.Asp485Gly)
c.1388A>G (p.Asp463Gly)
c.1448A>G (p.Asp483Gly)
c.1394A>G (p.Asp465Gly)
c.1319A>G (p.Asp440Gly)
c.914A>G (p.Asp305Gly)
c.272A>G (p.Asp91Gly)
n.1697A>G
10g.71645949A>TCA377127814CDH23c.1259A>T (p.Asp420Val)
c.690A>T
n.1095A>T
c.923A>T (p.Asp308Val)
c.1274A>T (p.Asp425Val)
c.1004A>T (p.Asp335Val)
c.34A>T
c.228A>T
c.1454A>T (p.Asp485Val)
c.1388A>T (p.Asp463Val)
c.1448A>T (p.Asp483Val)
c.1394A>T (p.Asp465Val)
c.1319A>T (p.Asp440Val)
c.914A>T (p.Asp305Val)
c.272A>T (p.Asp91Val)
n.1697A>T
 dbSNP gnomAD v4
10g.71645950C>ACA377127815CDH23c.1260C>A (p.Asp420Glu)
c.691C>A
n.1096C>A
c.924C>A (p.Asp308Glu)
c.1275C>A (p.Asp425Glu)
c.1005C>A (p.Asp335Glu)
c.35C>A
c.229C>A
c.1455C>A (p.Asp485Glu)
c.1389C>A (p.Asp463Glu)
c.1449C>A (p.Asp483Glu)
c.1395C>A (p.Asp465Glu)
c.1320C>A (p.Asp440Glu)
c.915C>A (p.Asp305Glu)
c.273C>A (p.Asp91Glu)
n.1698C>A
10g.71645950C>GCA377127816CDH23c.1260C>G (p.Asp420Glu)
c.691C>G
n.1096C>G
c.924C>G (p.Asp308Glu)
c.1275C>G (p.Asp425Glu)
c.1005C>G (p.Asp335Glu)
c.35C>G
c.229C>G
c.1455C>G (p.Asp485Glu)
c.1389C>G (p.Asp463Glu)
c.1449C>G (p.Asp483Glu)
c.1395C>G (p.Asp465Glu)
c.1320C>G (p.Asp440Glu)
c.915C>G (p.Asp305Glu)
c.273C>G (p.Asp91Glu)
n.1698C>G
10g.71645950C>TCA470058017CDH23c.1260C>T (p.Asp420=)
c.691C>T
n.1096C>T
c.924C>T (p.Asp308=)
c.1275C>T (p.Asp425=)
c.1005C>T (p.Asp335=)
c.35C>T
c.229C>T
c.1455C>T (p.Asp485=)
c.1389C>T (p.Asp463=)
c.1449C>T (p.Asp483=)
c.1395C>T (p.Asp465=)
c.1320C>T (p.Asp440=)
c.915C>T (p.Asp305=)
c.273C>T (p.Asp91=)
n.1698C>T
 gnomAD v4
10g.71645951T>ACA377127817CDH23c.1261T>A (p.Tyr421Asn)
c.692T>A
n.1097T>A
c.925T>A (p.Tyr309Asn)
c.1276T>A (p.Tyr426Asn)
c.1006T>A (p.Tyr336Asn)
c.36T>A
c.230T>A
c.1456T>A (p.Tyr486Asn)
c.1390T>A (p.Tyr464Asn)
c.1450T>A (p.Tyr484Asn)
c.1396T>A (p.Tyr466Asn)
c.1321T>A (p.Tyr441Asn)
c.916T>A (p.Tyr306Asn)
c.274T>A (p.Tyr92Asn)
n.1699T>A
10g.71645951T>CCA377127818CDH23c.1261T>C (p.Tyr421His)
c.692T>C
n.1097T>C
c.925T>C (p.Tyr309His)
c.1276T>C (p.Tyr426His)
c.1006T>C (p.Tyr336His)
c.36T>C
c.230T>C
c.1456T>C (p.Tyr486His)
c.1390T>C (p.Tyr464His)
c.1450T>C (p.Tyr484His)
c.1396T>C (p.Tyr466His)
c.1321T>C (p.Tyr441His)
c.916T>C (p.Tyr306His)
c.274T>C (p.Tyr92His)
n.1699T>C
10g.71645951T>GCA377127819CDH23c.1261T>G (p.Tyr421Asp)
c.692T>G
n.1097T>G
c.925T>G (p.Tyr309Asp)
c.1276T>G (p.Tyr426Asp)
c.1006T>G (p.Tyr336Asp)
c.36T>G
c.230T>G
c.1456T>G (p.Tyr486Asp)
c.1390T>G (p.Tyr464Asp)
c.1450T>G (p.Tyr484Asp)
c.1396T>G (p.Tyr466Asp)
c.1321T>G (p.Tyr441Asp)
c.916T>G (p.Tyr306Asp)
c.274T>G (p.Tyr92Asp)
n.1699T>G

Number of alleles fetched